Journal articles: 'Disorders of sex development (DSD)'

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Yamamoto, Noriko, Fumihisa Chishima, and Tatsuo Yamamoto. "Sexual Development and Disorders of sex development (DSD)." Journal of Nihon University Medical Association 72, no. 3 (2013): 129–36. http://dx.doi.org/10.4264/numa.72.129.

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Mendonca, Berenice Bilharinho, Sorahia Domenice, Ivo J. P. Arnhold, and Elaine M. F. Costa. "46,XY disorders of sex development (DSD)." Clinical Endocrinology 70, no. 2 (February 2009): 173–87. http://dx.doi.org/10.1111/j.1365-2265.2007.02993.x-i1.

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Mendonca, Berenice Bilharinho, Sorahia Domenice, Ivo J. P. Arnhold, and Elaine M. F. Costa. "46,XY disorders of sex development (DSD)." Clinical Endocrinology 70, no. 2 (September 22, 2008): 173–87. http://dx.doi.org/10.1111/j.1365-2265.2008.03392.x.

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Bashamboo, Anu, and Ken McElreavey. "Human sex-determination and disorders of sex-development (DSD)." Seminars in Cell & Developmental Biology 45 (September 2015): 77–83. http://dx.doi.org/10.1016/j.semcdb.2015.10.030.

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Eapen, Anu, Anuradha Chandramohan, Betty Simon, Tharani Putta, Reetu John, and Aruna Kekre. "Imaging Evaluation of Disorders of Sex Development." Journal of Gastrointestinal and Abdominal Radiology 03, no. 02 (January 27, 2020): 181–92. http://dx.doi.org/10.1055/s-0039-3402101.

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AbstractDisorders of sex development (DSD) refer to congenital conditions with a typical development of chromosomal, gonadal, or anatomic sex. In the revised classification of DSD, there are three categories based on karyotype: 46,XX DSD; 46,XY DSD; and sex chromosome DSD. Imaging, as part of a multidisciplinary approach to management of DSD, has a key role in gender assignment. The main role of imaging is to help in identifying the gonads and the Müllerian structures. Ultrasound is useful, especially in the neonate with ambiguous genitalia. Magnetic resonance imaging is a useful modality to locate and characterize the gonads in young girls with primary amenorrhea and also to identify streak gonads, which have a risk of malignancy.

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Guerrero-Fernández, Julio, Cristina Azcona San Julián, Jesús Barreiro Conde, José Antonio Bermúdez de la Vega, Atilano Carcavilla Urquí, Luis Antonio Castaño González, José María Martos Tello, et al. "Management guidelines for disorders/different sex development (DSD)." Anales de Pediatría (English Edition) 89, no. 5 (November 2018): 315.e1–315.e19. http://dx.doi.org/10.1016/j.anpede.2018.06.006.

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Looijenga, Leendert H. J., Remko Hersmus, J. Wolter Oosterhuis, Martine Cools, Stenvert L. S. Drop, and Katja P. Wolffenbuttel. "Tumor risk in disorders of sex development (DSD)." Best Practice & Research Clinical Endocrinology & Metabolism 21, no. 3 (September 2007): 480–95. http://dx.doi.org/10.1016/j.beem.2007.05.001.

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Gecz, J., J. Breza, and P. Banovcin. "Non-Syndromic 46,XY Disorders of Sex Development." Acta Medica Martiniana 18, no. 1 (June 1, 2018): 35–41. http://dx.doi.org/10.2478/acm-2018-0005.

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Abstract Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group of disorders. We focus on the association between gene variants and the most frequent types of non-syndromic 46,XY DSD, options of molecular genetic testing which has surely taken its place in diagnostics of DSD in the past couple of years. We emphasize the need of molecular genetic testing in individuals with non-syndromic 46,XY DSD in Slovak Republic.

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Walia, R., M. Singla, K. Vaiphei, S. Kumar, and A. Bhansali. "Disorders of sex development: a study of 194 cases." Endocrine Connections 7, no. 2 (February 2018): 364–71. http://dx.doi.org/10.1530/ec-18-0022.

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Objective To study the clinical proﬁle and the management of patients with disorders of sex development (DSD). Design and setting Retrospective study from a tertiary care hospital of North India. Methods and patients One hundred ninety-four patients of DSD registered in the Endocrine clinic of Postgraduate Institute of Medical Education and Research, Chandigarh between 1995 and 2014 were included. Results One hundred and two patients (52.5%) had 46,XY DSD and seventy-four patients (38.1%) had 46,XX DSD. Sex chromosome DSD was identified in seven (3.6%) patients. Of 102 patients with 46,XY DSD, 32 (31.4%) had androgen insensitivity syndrome and 26 (25.5%) had androgen biosynthetic defect. Of the 74 patients with 46,XX DSD, 52 (70.27%) had congenital adrenal hyperplasia (CAH) and eight (10.8%) had ovotesticular DSD. Five patients with sex chromosome DSD had mixed gonadal dysgenesis. Excluding CAH, majority of the patients (90%) presented in the post-pubertal period. One-fourth of the patients with simple virilising CAH were reared as males because of strong male gender identity and behaviour and firm insistence by the parents. Corrective surgeries were performed in twenty patients (20%) of 46,XY DSD without hormonal evaluation prior to the presentation. Conclusion Congenital adrenal hyperplasia is the most common DSD in the present series. Most common XY DSD is androgen insensitivity syndrome, while CAH is the most common XX DSD. Delayed diagnosis is a common feature, and corrective surgeries are performed without seeking a definite diagnosis.

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Malone, P. S., M. A. Hall-Craggs, P. D. E. Mouriquand, and A. A. Caldamone. "The anatomical assessment of disorders of sex development (DSD)." Journal of Pediatric Urology 8, no. 6 (December 2012): 585–91. http://dx.doi.org/10.1016/j.jpurol.2012.08.009.

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Sandberg, D., N. Callens, and A. Wisniewski. "Disorders of Sex Development (DSD): Networking and Standardization Considerations." Hormone and Metabolic Research 47, no. 05 (May 13, 2015): 387–93. http://dx.doi.org/10.1055/s-0035-1548936.

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Harris, Abigail, Pam Siggers, Nick Warr, Gwenn Carre, Anu Bashamboo, Ken McElreavey, and Andy Greenfield. "Mouse models of human disorders of sex development (DSD)." Mechanisms of Development 145 (July 2017): S148. http://dx.doi.org/10.1016/j.mod.2017.04.417.

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Adam, Margaret P., and Eric Vilain. "Emerging issues in disorders/differences of sex development (DSD)." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 175, no. 2 (June 2017): 249–52. http://dx.doi.org/10.1002/ajmg.c.31564.

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Alkhzouz, Camelia, Simona Bucerzan, Maria Miclaus, Andreea-Manuela Mirea, and Diana Miclea. "46,XX DSD: Developmental, Clinical and Genetic Aspects." Diagnostics 11, no. 8 (July 30, 2021): 1379. http://dx.doi.org/10.3390/diagnostics11081379.

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Differences in sex development (DSD) in patients with 46,XX karyotype occur by foetal or postnatal exposure to an increased amount of androgens. These disorders are usually diagnosed at birth, in newborns with abnormal genitalia, or later, due to postnatal virilization, usually at puberty. Proper diagnosis and therapy are mostly based on the knowledge of normal development and molecular etiopathogenesis of the gonadal and adrenal structures. This review aims to describe the most relevant data that are correlated with the normal and abnormal development of adrenal and gonadal structures in direct correlation with their utility in clinical practice, mainly in patients with 46,XX karyotype. We described the prenatal development of structures together with the main molecules and pathways that are involved in sex development. The second part of the review described the physical, imaging, hormonal and genetic evaluation in a patient with a disorder of sex development, insisting more on patients with 46,XX karyotype. Further, 95% of the etiology in 46,XX patients with disorders of sex development is due to congenital adrenal hyperplasia, by enzyme deficiencies that are involved in the hormonal synthesis pathway. The other cases are explained by genetic abnormalities that are involved in the development of the genital system. The phenotypic variability is very important in 46,XX disorders of sex development and the knowledge of each sign, even the most discreet, which could reveal such disorders, mainly in the neonatal period, could influence the evolution, prognosis and life quality long term.

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Raveenthiran, V. "Neonatal Sex Assignment in Disorders of Sex Development: A Philosophical Introspection." Journal of Neonatal Surgery 6, no. 3 (August 17, 2017): 58. http://dx.doi.org/10.21699/jns.v6i3.604.

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Management of ambiguous genitalia is highly controversial. This condition was known previously as intersex and presently as disorders of sex development (DSD). There is no consensus regarding the choice, timing and method of sex assignment in neonates with DSD. Consensus conferences could not unify the views of various stakeholders and third parties. This article philosophically examines the nature and origin of such controversies. Misconception, bias and conflicting priorities are identified as the three cardinal sources of controversies. Conceptual duality of sexes, confused notion of sex and gender, bias towards penetrative intercourse, conflict between utopian ideals and reality, unwillingness to compromise are identified as perpetuators of controversies. Suggestions are made regarding sex assignment in various types of DSD based on the understanding of published literature and the author’s personal experience.

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Sap, Suzanne Ngo Um, Ritha Mbono Betoko, Martine Etoa Etoga, Pierre Yves Mure, Yves Morel, Sophie Dahoun, Faustin Mouafo Tambo, Boniface Moiffo, Eugène Sobngwi, and Paul Koki Ndombo. "Observational study of disorders of sex development in Yaounde, Cameroon." Journal of Pediatric Endocrinology and Metabolism 33, no. 3 (March 26, 2020): 417–23. http://dx.doi.org/10.1515/jpem-2019-0458.

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AbstractIntroductionAccording to the current classification of the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Pediatric Endocrinology (ESPE) of Disorders of Sex Development (DSD), etiologies vary around the world. Ethnic or genetic diversity probably explains this variability. We therefore conducted the present study on etiologies of DSDs in a country from central Africa.MethodsWe carried out an observational retrospective study at the Pediatric Endocrinology Unit of the Mother and Child Centre of the Chantal Biya Foundation in Yaounde, Cameroon from May 2013 to December 2019. All patients diagnosed with a DSD were included, and incomplete files excluded.ResultsWe included 80 patients diagnosed with DSD during the study period. The 46,XX DSD were the most frequent in our study population (n = 41, 51.25%), with congenital adrenal hyperplasia (CAH) as the main diagnosis. The 46,XY DSD accounted for 33.75% and sex chromosome DSD group represented 15% of the study population.ConclusionsDSDs are not an exceptional diagnosis in a Sub-Saharan context. 46,XX DSD are the most prevalent diagnosis in our setting. The diagnosis of all these affections is late compared to other centers, justifying advocacy for neonatal screening of DSDs in our context.

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Wisniewski, Amy B., Rafael L. Batista, Elaine M. F. Costa, Courtney Finlayson, Maria Helena Palma Sircili, Francisco Tibor Dénes, Sorahia Domenice, and Berenice B. Mendonca. "Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life." Endocrine Reviews 40, no. 6 (July 31, 2019): 1547–72. http://dx.doi.org/10.1210/er.2019-00049.

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Abstract Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions that result in discordance between an individual’s sex chromosomes, gonads, and/or anatomic sex. Advances in the clinical care of patients and families affected by 46,XY DSD have been achieved since publication of the original Consensus meeting in 2006. The aims of this paper are to review what is known about morbidity and mortality, diagnostic tools and timing, sex of rearing, endocrine and surgical treatment, fertility and sexual function, and quality of life in people with 46,XY DSD. The role for interdisciplinary health care teams, importance of establishing a molecular diagnosis, and need for research collaborations using patient registries to better understand long-term outcomes of specific medical and surgical interventions are acknowledged and accepted. Topics that require further study include prevalence and incidence, understanding morbidity and mortality as these relate to specific etiologies underlying 46,XY DSD, appropriate and optimal options for genitoplasty, long-term quality of life, sexual function, involvement with intimate partners, and optimizing fertility potential.

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Auchus, R., and E. Quint. "Adolescents with Disorders of Sex Development (DSD) – Lost in Transition?" Hormone and Metabolic Research 47, no. 05 (March 6, 2015): 367–74. http://dx.doi.org/10.1055/s-0035-1545303.

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Szczerbal, Izabela, Wojciech Nizanski, Stanislaw Dzimira, Joanna Nowacka-Woszuk, Joanna Stachecka, Janusz Biezynski, Zuzanna Ligocka, Dariusz Jagodka, Hanna Fabian-Kurzok, and Marek Switonski. "Chromosome abnormalities in dogs with disorders of sex development (DSD)." Animal Reproduction Science 230 (July 2021): 106771. http://dx.doi.org/10.1016/j.anireprosci.2021.106771.

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M Selveindran, Nalini, Syed Zulkifli Syed Zakaria, Muhammad Yazid Jalaludin, and Rahmah Rasat. "Quality of Life in Children with Disorders of Sex Development." Hormone Research in Paediatrics 88, no. 5 (2017): 324–30. http://dx.doi.org/10.1159/000478780.

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Background/Aims: Disorders of sex development (DSD) are a heterogeneous group of rare conditions. Evidence-based treatment is challenged by a lack of clinical longitudinal outcome studies. We sought to investigate the quality of life of children with DSD other than congenital adrenal hyperplasia. Methods: The participants (aged 6–18 years) were 23 patients raised as males and 7 patients raised as females. Control data were obtained from representatives of the patients’ siblings matched for age and gender. The Pediatric Quality of Life InventoryTM Version 4.0 (PedsQL) Generic Core Scales were used as the study tool. Results: In comparison with the reference data, the patient group had significantly lower overall PedsQL (p < 0.01) and school functioning (p < 0.01) scores. Also, the total PedsQL score was significantly lower in patients with DSD who were of female social sex as compared to the controls who were females. Family income, surgical procedures, degree of virilization, and mode of puberty did not influence the PedsQL scores. Conclusion: This study revealed a poorer quality of life for patients with DSD as compared to the age-matched control group. This highlights the need for a skilled multidisciplinary team to manage this group of patients.

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van de Grift, Tim C., and Baudewijntje P. C. Kreukels. "Breast development and satisfaction in women with disorders/differences of sex development." Human Reproduction 34, no. 12 (November 27, 2019): 2410–17. http://dx.doi.org/10.1093/humrep/dez230.

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Abstract STUDY QUESTION What are the levels of breast development and satisfaction in women with a Disorder/Difference of Sex Development (DSD)? SUMMARY ANSWER Compared with normative data, women with DSD reached lower Tanner stages and reported less breast satisfaction. WHAT IS KNOWN ALREADY Women with DSD may have chromosomal and hormonal variations that can impact typical breast development. While much emphasis is placed on genital development in this group, little is known about breast development, satisfaction and their association. STUDY DESIGN, SIZE, DURATION Data collection was part of the cross-sectional European multicenter dsd-LIFE study. Fourteen recruiting sites included 1040 participants between February 2014 and September 2015. PARTICIPANTS/MATERIALS, SETTING, METHODS A total of 695 female-identifying participants were included (Turner n = 332, 46,XY DSD n = 141 and congenital adrenal hyperplasia n = 222), with a median age of 28 years. Clinical (i.e. history of hormone and surgical treatments, Tanner breast examination) and patient-reported (i.e. breast satisfaction, relationship status, sexual satisfaction and experienced femininity) data was collected by independent trained research staff. The relationship between breast development, satisfaction and femininity was assessed. Control data on breast development and satisfaction in women without DSD was retrieved from the literature. MAIN RESULTS AND THE ROLE OF CHANCE Of the 695 participants, 61% had received estrogen replacement and 51% puberty induction therapy, whereas 2% had received breast augmentation surgery. Approximately 65% of participants had reached Tanner breast stage 5, which is substantially less than the general population (90%). Breast satisfaction was lower than normative data as well (P < 0.001, Cohen’s d = 0.45). Breast size and breast satisfaction were associated with feelings of femininity. LIMITATIONS, REASONS FOR CAUTION Limitations include the sample representativeness (e.g. regarding the clinical heterogeneity) and the limited in-depth knowledge on (prior) hormonal regimens. Furthermore, no (matched) control data was collected as part of this study. WIDER IMPLICATIONS OF THE FINDINGS In order to support the psychosexual well-being of women with DSD, enhancing breast development by sufficient hormone replacement and possible augmentation surgery is advocated. The scope of DSD management should be beyond genital development only and consider breasts as well. STUDY FUNDING/COMPETING INTEREST(S) The study was funded by the European Union Seventh Framework Program (FP7/2007–2013) under grant agreement no. 305 373. There are no competing interests. TRIAL REGISTRATION NUMBER German Clinical Trials Register: Registration identification number: DRKS00006072.

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Bennecke, Elena, Stephanie Bernstein, Peter Lee, Tim C. van de Grift, Agneta Nordenskjöld, Marion Rapp, Margaret Simmonds, Jürg C. Streuli, Ute Thyen, and Claudia Wiesemann. "Early Genital Surgery in Disorders/Differences of Sex Development: Patients’ Perspectives." Archives of Sexual Behavior 50, no. 3 (March 12, 2021): 913–23. http://dx.doi.org/10.1007/s10508-021-01953-6.

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AbstractControversy continues over a proposed moratorium on elective genital surgery in childhood for disorders/differences of sex development (DSD). Empirical evidence on patient preference is needed to inform decision-making. We conducted a multicentre survey by cross-sectional questionnaire in 14 specialized clinics in six European countries. The sample comprised 459 individuals (≥ 16 years) with a DSD diagnosis, including individuals with congenital adrenal hyperplasia (CAH) (n = 192), XY DSD with prenatal androgen effect (A) (n = 150), and without (nA) (n = 117). Main outcome measures were level of agreement with given statements regarding genital surgery, including clitoris reduction, vaginoplasty, and hypospadias repair. A total of 66% of individuals with CAH and 60% of those with XY DSD-A thought that infancy or childhood were the appropriate age for genital surgery. Females with XY DSD were divided on this issue and tended to prefer vaginoplasty at a later age (XY DSD-A 39%, XY DSD-nA 32%). A total of 47% of males preferred early hypospadias surgery. Only 12% (CAH), 11% (XY DSD-A), and 21% (XY DSD-nA) thought they would have been better off without any surgery in childhood or adolescence. Individuals who had early genital surgery were more likely to approve of it. Outcome data failed to support a general moratorium on early elective genital surgery. Participant perspectives varied considerably by diagnostic category, gender, history of surgery, and contact with support groups. Case-by-case decision-making is better suited to grasping the ethical complexity of the issues at stake.Trial registration: German Clinical Trials Register DRKS00006072.

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Jesmin, Eva, Fauzia Mohsin, and Nurun Nahar Fatema Begum. "Study on 46 XY Disorders of Sex Development." Journal of Armed Forces Medical College, Bangladesh 14, no. 2 (March 10, 2020): 134–38. http://dx.doi.org/10.3329/jafmc.v14i2.45893.

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Introduction: 46 XY disorders of sexual development (DSD) include a wide sphere of phenotypes which can be ambiguous male genitalia with or without hypospadias, unambiguous female genitalia or dysgenetic gonads or any combination of them. Management of these patients depends on the aetiology, age at presentation, gender orientation and advancement in feminization. Objectives: To assess the clinical, biochemical, radiological and chromosomal profile of the paediatric patients with suspected DSD attending a tertiary level healthcare centre and plan for appropriate management. Materials and Methods: This cross-sectional study was carried out among 30 cases of 46XY DSD attending the paediatric endocrine unit of Bangladesh Institute of Research and Rehabilitation in Diabetes Endocrine and Metabolic Disorders (BIRDEM) General Hospital from May 2016 to April 2017. Clinical, biochemical, radiological and chromosomal evaluations were done to identify the cause of DSD. Results: The mean age of the patients recruited in the study was 3.51 (±5.03) years ranging from 13 days old to 13 years old. Among these 30 patients, the chief complaint was ambiguous genitalia in 29 (96.7%) cases, 1 (3.3%) case with Micropenis and 1 (3.3%) case with absence of development of secondary sexual characteristics. The gender of rearing was male in 23 (76.7%) cases and rest as female. Among the patients 5 (16.67%) patients were diagnosed with PAIS, 5 (16.67%) patients with CAIS, 3 (10%) patients had a deficiency of 5αRD and gonadal dysgenesis was found in 5 (16.67%) patients. The corrective surgery was done in 5(16.67%) patients, 16 (53.3%) patients referred to surgeon for operative treatment and 7(23.3%) patients were prescribed to administer testosterone. Conclusions: The early presentation, correct identification of the cause and initiation of cause-based treatment can abate the physical and psychosocial complications and may support better gender orientation related adjustability. Journal of Armed Forces Medical College Bangladesh Vol.14 (2) 2018: 134-138

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Maritska, Ziske, Bintang Arroyantri Prananjaya, Zabila Adwie Prilishia, Nita Parisa, and Sativandi Riza. "Geographical Variations of Disorders of Sex Development (DSD) in South Sumatera Region." Bioscientia Medicina : Journal of Biomedicine and Translational Research 3, no. 3 (August 31, 2019): 24–33. http://dx.doi.org/10.32539/bsm.v3i3.93.

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ABSTRACT Background. Disorders of Sex Development (DSD) is a condition where the development of sex chromosomes, gonads, and/or oneâ€™s anatomy is atypical. Its causes are often due to genetic mutations, although some are also linked to environmental risk factors. These multiple aetiologies lead to varied clinical findings, ranging from obvious ambiguous genitals to subtle ones in different regions worldwide, signalling a hint of geographical variability. Objective. This study wishes to observe the variations of clinical findings of DSD patients geographically in South Sumatera. Methods. This was an observational study using patientsâ€™ medical records in RSUP Dr. Mohammad Hoesin Palembang. Both inpatients and outpatients during five-year period span (2013-2017) with clinical findings suited DSD criteria based on Chicago Consensus in 2006 were included in this study. Results. One hundred and forty nine patients from cities and regencies in South Sumatera province and other provinces like Jambi, Lampung, Bengkulu, Bangka-Belitung, and even Riau were included in this study. Among sixteen clinical findings identified, hypospadias ranked first (59.06%), both in general, and in each regions as well. When set by side with other regions, Palembang city as the capital city of South Sumatera province displays twelve out of sixteen clinical findings documented in this study, showing a lot more variety. Conclusion. Every regions show difference clinical findings. Some regions housed clinical findings that were not found in other regions. However, hypospadias is the most commonly found clinical findings in all regions. It is suspected due to its correlation with certain environmental risks, that the occurence of it becomes rather often, compared to other DSD conditions. Future studies considering risk factors involvement in order to elucidate both differences and similarities found in each regions are strongly suggested. Keywords: Disorders of Sex Development, DSD, Geographical variations, South Sumatera

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Bukowski, W., E. McCauley, and T. Mazur. "Disorders of Sex Development (DSD): Peer Relations and Psychosocial Well-Being." Hormone and Metabolic Research 47, no. 05 (May 13, 2015): 357–60. http://dx.doi.org/10.1055/s-0035-1549884.

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Conway, Gerard S. "Disorders of sex development (DSD): an overview of recent scientific advances." Psychology & Sexuality 5, no. 1 (September 13, 2013): 28–33. http://dx.doi.org/10.1080/19419899.2013.831213.

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Hiort, Olaf. "Long-term management of patients with disorders of sex development (DSD)." Annales d'Endocrinologie 75, no. 2 (May 2014): 64–66. http://dx.doi.org/10.1016/j.ando.2014.03.008.

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Vidal, Isabelle, Daniela Brindusa Gorduza, Elodie Haraux, Claire-Lise Gay, Pierre Chatelain, Marc Nicolino, Pierre-Yves Mure, and Pierre Mouriquand. "Surgical options in disorders of sex development (dsd) with ambiguous genitalia." Best Practice & Research Clinical Endocrinology & Metabolism 24, no. 2 (April 2010): 311–24. http://dx.doi.org/10.1016/j.beem.2009.10.004.

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Bolde, Saroj Ashok, Arva Ali Pirosha, Sushma N. Ramraje, and Shubhangi V. Agale. "Histopathological spectrum of disorders of sexual development: a case series of seven cases." International Journal of Research in Medical Sciences 8, no. 6 (May 26, 2020): 2303. http://dx.doi.org/10.18203/2320-6012.ijrms20202283.

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Disorders of sexual development (DSD) refer to cases in which there is a discordance among at least two of the following; genetic sex, gonadal sex, genital tract sex and phenotypic sex. DSDs are quite rare with reported incidence varying from 1 in 4,500 to 1 in 5,500. Ovotesticular disorder is amongst the rarest variety of DSD comprising only to 3-10% of all cases of DSD with only 500 cases reported till now worldwide. Frequency of MRKH syndrome is 1 in 4,500 cases and is the cause of amenorrhoea in 15% of cases of primary amenorrhoea. Authors present a case series of seven cases of DSDs with three cases diagnosed as androgen insensitivity syndrome, two cases of true ovotesticular DSD (true hermaphrodite), one case each of mixed gonadal dysgenesis and Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome. Authors received the histopathology specimen of these cases in this department which was extensively sampled to study the gonads and the other derivatives of Mullerian and Wolffian duct and to rule out presence of any malignancy.

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Listyasari, Nurin Aisyiyah, Ardy Santosa, Achmad Zulfa Juniarto, and Sultana MH Faradz. "Multidisciplinary Management of Disorders of Sex Development in Indonesia, A Prototype in Developing Country." Journal of Biomedicine and Translational Research 3, no. 1 (June 23, 2017): 17. http://dx.doi.org/10.14710/jbtr.v3i1.1209.

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Background : Disorder of sex development (DSD) patients require comprehensive management to improve quality of life. A standardized management protocol for patients in Indonesia is not yet available resulting in patients infrequently received a proper diagnosis. This study reported a multidisciplinary management DSD in Indonesia based on minimal diagnostic facilities and expertise in developing country.Objectives : The purpose of the study is to review the management of DSD patients in Indonesia relates to providing appropriate gender assignment and to improving patients quality of life.Methodology : We analyzed the records of DSD patient admitted to the division of Human Genetics Center for Biomedical Research (CEBIOR) Faculty of Medicine Diponegoro University, Semarang, Indonesia from May 2004 - December 2015. Data were collected and analyzed for physical examination, family pedigree karyotyping, hormonal assays and psychosocial. Other examination such as ultrasonography, Xray and Cytoscopy were also recorded for selected cases. Bimonthly, Sexual Adjustment Team (SAT) meeting was recorded.Results : From the total 617 DSD cases we found 426 cases (69,04 %) with 46, XY DSD, 117 cases (18,96%) with 46,XX DSD and 74 cases (12%) with sex chromosome DSD. Most of the patients in the group of 46, XY DSD are Unknown Male Undervirilization (UMU) with 256 cases (60.09%). As the majority cases of 46, XX DSD was Congenital Adrenal Hyperplasia with 81 cases (69.23%). The remaining cases were Androgen Action Disorder (AAD) with 140 cases (32.86%), 46, XY DSD Gonadal Dysgenesis with 30 cases (7.04%), Androgen Excess Disorders with 3 cases (2.56%), Defect of Mullerian Development with 19 cases (16,24%), 3 cases (2.56%) of Androgen Excess and 3 cases (2.56%) of 46, XX Gonadal Dysgenesis.Conclusion : Comprehensive management for DSD Patients help patient in diagnosis, gender assignment and support patient to improve quality of life. This multidisciplinary of DSD team is the only team in Indonesia that can be used as a model for other center in Indonesia as well as other developing countries with minimal diagnostic facilities.

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Faradz, Sultana MH. "Genetic Analysis for the Diagnosis of Disorders of Sexual Development in Indonesia." Journal of Biomedicine and Translational Research 2, no. 2 (December 29, 2016): 44. http://dx.doi.org/10.14710/jbtr.v2i2.622.

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Disorders of sex development (DSD) is defined by congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical, while in clinical practice this term means any abnormality of the external genitalia. DSD patients have been managed by a multidisciplinary gender team in our center as collaboration between Dr. Kariadi province referral hospital and Faculty of Medicine Diponegoro University. Diagnosis should be established by specific physical examination hormonal, chromosomal and DNA studies; and imaging for most of the cases depending on indication.Since 2004 the involvement of molecular and cytogenetic analysis so far can diagnosed many of the DSD cases. Most of the genetically proven cases were Congenital Adrenal hyperplasia, Androgen Insensitivity syndrome and sex chromosomal DSD that lead abnormal gonadal development. Many of them remain undiagnosed, further testing such as advanced DNA study should be carried out in collaboration with other center in overseas.The novel genes were found in some cases that contributed for the management of DSD. Information for medical professionals, patients, family members and community about the availability and necessity of DSD diagnosis should be delivered to improve DSD management and patient quality of life.

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Tejwani, Rohit, Ruiyang Jiang, Steven Wolf, Deanna W. Adkins, Brian J. Young, Muhammad Alkazemi, John S. Wiener, Gina-Maria Pomann, J. Todd Purves, and Jonathan C. Routh. "Contemporary Demographic, Treatment, and Geographic Distribution Patterns for Disorders of Sex Development." Clinical Pediatrics 57, no. 3 (July 30, 2017): 311–18. http://dx.doi.org/10.1177/0009922817722013.

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This study aimed to describe the demographic characteristics, hospital utilizations, patterns of inpatient surgical management, and the overall state/regional variation in surgery rate among patients with disorders of sex development (DSD). We analyzed the Nationwide Inpatient Sample from 2001 to 2012 for patients younger than 21 years. DSD-related diagnoses and procedures were identified via International Classification of Diseases, Ninth Revision (ICD-9) codes. We identified a total of 43,968 DSD-related admissions. Of these, 73.4% of the admissions were designated as female and 642 (1.9%) were inpatient surgical admissions. Among neonates, less than 1% underwent any type of genital surgery. Nonsurgical admissions were associated with longer length of stay and higher cost. There was no significant regional variation in the rate of DSD surgeries, but we observed higher concentrations of DSD surgeries in states associated with tertiary referral centers.

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Kreukels, Baudewijntje P. C., Peggy T. Cohen-Kettenis, Robert Roehle, Tim C. van de Grift, Jolanta Slowikowska-Hilczer, Hedi Claahsen-van der Grinten, Angelica Lindén Hirschberg, et al. "Sexuality in Adults with Differences/Disorders of Sex Development (DSD): Findings from the dsd-LIFE Study." Journal of Sex & Marital Therapy 45, no. 8 (June 18, 2019): 688–705. http://dx.doi.org/10.1080/0092623x.2019.1610123.

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Dzimira, S., W. Nizanski, and J. A. Madej. "Morphological analysis of testicles in cats with disorders of sex development." Polish Journal of Veterinary Sciences 20, no. 1 (March 28, 2017): 123–31. http://dx.doi.org/10.1515/pjvs-2017-0016.

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Abstract Disorders of sex development (DSD) are rare in cats. They can be caused by chromosomal aberrations, gene mutations or other undefined factors. The aim of the present study was to compare the histological structure and immunohistochemical reactivity of testes in cats with DSD and in healthy cats. The research material consisted of the gonads of four cats - phenotypic males with an incorrect structure of the reproductive system. The control group consisted of the testes of four healthy cats - routinely castrated phenotypical males. The material was fixed with formalin and embedded in paraffin; the sections were stained with hematoxylin and eosin. The immunohistochemical investigation were performed using monoclonal and polyclonal antibodies directed against desmin, vimentin, actin of smooth muscles, S100 protein and MCM3 protein. The results obtained allow concluding that the testes of cats with DSD differed in certain respects, mainly in the number of blood vessels, from the normal testes. Moreover, the results of immunohistochemical examination indicate that in the testes of cats with DSD the number of supporting cells is lower, the amount of interstitial cells is comparable and spermatogenesis is correct es compared to those determined in the control gonads. The number of blood vessels in cats with DSD is reduced by about 30%. It confirms the recommendations for castration of these animals in order to eliminate the potential inheritance of sex development disorders.

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Falhammar, Henrik, Hedi Claahsen-van der Grinten, Nicole Reisch, Jolanta Slowikowska-Hilczer, Anna Nordenström, Robert Roehle, Claire Bouvattier, Baudewijntje P. C. Kreukels, Birgit Köhler, and _. _. "Health status in 1040 adults with disorders of sex development (DSD): a European multicenter study." Endocrine Connections 7, no. 3 (March 2018): 466–78. http://dx.doi.org/10.1530/ec-18-0031.

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Objective The knowledge about health status in adults with disorder of sex development (DSD) is scarce. Design and methods A cross-sectional observational study in 14 European tertiary centers recruited 1040 participants (717 females, 311 males, 12 others) with DSD. Mean age was 32.4 ± 13.6 year (range 16–75). The cohort was divided into: Turner (n = 301), Klinefelter (n = 224), XY-DSD (n = 222), XX-DSD (excluding congenital adrenal hyperplasia (CAH) and 46,XX males) (n = 21), 46,XX-CAH (n = 226) and 45,X/46,XY (n = 45). Perceived and objective health statuses were measured and compared to European control data. Results In DSD, fair to very good general health was reported by 91.4% and only 8.6% reported (very) bad general health (controls 94.0% and 6.0%, P < 0.0001). Longstanding health issues other than DSD and feeling limited in daily life were reported in 51.0% and 38.6%, respectively (controls 24.5% and 13.8%, P < 0.0001 both). Any disorder except DSD was present in 84.3% (controls 24.6%, P < 0.0001). Males reported worse health than females. In the subgroup analysis, Klinefelter and 46,XX-DSD patients reported bad general health in 15.7% and 16.7%, respectively (Turner 3.2% and CAH 7.4%). Comorbidities were prevalent in all DSD subgroups but Klinefelter and Turner were most affected. Early diagnosis of DSD and a healthy lifestyle were associated with less comorbidities. Conclusions Overall, general health appeared to be good but a number of medical problems were reported, especially in Klinefelter and Turner. Early diagnosis of DSD and a healthy lifestyle seemed to be important. Lifelong follow-up at specialized centers is necessary.

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De Paula, Georgette Beatriz, Beatriz Amstalden Barros, Stela Carpini, Bruna Jordan Tincani, Tais Nitsch Mazzola, Mara Sanches Guaragna, Cristiane Santos da Cruz Piveta, et al. "408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing." International Journal of Endocrinology 2016 (2016): 1–9. http://dx.doi.org/10.1155/2016/4963574.

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Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia.Methods. Retrospective study during 23 years at outpatient clinic of a referral center.Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations. The main etiology of 46,XX ovarian DSD was salt-wasting 21-hydroxylase deficiency. In 46,XX and 46,XY groups, other malformations were observed. In the DGD group, 46,XY partial gonadal dysgenesis, mixed gonadal dysgenesis, and ovotesticular DSD were more frequent. Low birth weight was observed in 42 cases of idiopathic 46,XY testicular DSD. The average age at diagnosis was 31.7 months. The final sex of rearing was male in 238 cases and female in 170. Only 6.6% (27 cases) needed sex reassignment.Conclusions. In this large DSD sample with ambiguous genitalia, the 46,XY karyotype was the most frequent; in turn, congenital adrenal hyperplasia was the most frequent etiology. Malformations associated with DSD were common in all groups and low birth weight was associated with idiopathic 46,XY testicular DSD.

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Baxter, Ruth M., Valerie A. Arboleda, Hane Lee, Hayk Barseghyan, Margaret P. Adam, Patricia Y. Fechner, Renee Bargman, et al. "Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development." Journal of Clinical Endocrinology & Metabolism 100, no. 2 (February 1, 2015): E333—E344. http://dx.doi.org/10.1210/jc.2014-2605.

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Abstract Context: Disorders of sex development (DSD) are clinical conditions where there is a discrepancy between the chromosomal sex and the phenotypic (gonadal or genital) sex of an individual. Such conditions can be stressful for patients and their families and have historically been difficult to diagnose, especially at the genetic level. In particular, for cases of 46,XY gonadal dysgenesis, once variants in SRY and NR5A1 have been ruled out, there are few other single gene tests available. Objective: We used exome sequencing followed by analysis with a list of all known human DSD-associated genes to investigate the underlying genetic etiology of 46,XY DSD patients who had not previously received a genetic diagnosis. Design: Samples were either submitted to the research laboratory or submitted as clinical samples to the UCLA Clinical Genomic Center. Sequencing data were filtered using a list of genes known to be involved in DSD. Results: We were able to identify a likely genetic diagnosis in more than a third of cases, including 22.5% with a pathogenic finding, an additional 12.5% with likely pathogenic findings, and 15% with variants of unknown clinical significance. Conclusions: Early identification of the genetic cause of a DSD will in many cases streamline and direct the clinical management of the patient, with more focused endocrine and imaging studies and better-informed surgical decisions. Exome sequencing proved an efficient method toward such a goal in 46,XY DSD patients.

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Fitrianingrum, Iit, Annastasia Ediati, and Sultana MH Faradz. "STRATEGI COPING ORANGTUA YANG MEMPUNYAI ANAK DENGAN DISORDERS OF SEX DEVELOPMENT KROMOSOM SEKS MOSAIK." Jurnal Psikologi 17, no. 2 (January 16, 2019): 189. http://dx.doi.org/10.14710/jp.17.2.189-203.

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This study aims to explore coping strategies used by parents’ of children with mosaic sex chromosome Disorders of Sex Development (DSD). The study applied the sequential explanatory mixed-methods approach that collected quantitative data prior to qualitative data. Participants were parents of the affected patients diagnosed with DSD with the following karyotype XX/XY, X/XY, XYY, or XXY variants. In total, 14 mothers and 12 fathers of 14 patients with a mosaic sex chromosome DSD participated in this study. We used the Indonesian version of BRIEF COPE to collect quantitative data on coping strategies. Furthermore, an invidual interview was conducted to all participants to elaborate the coping strategies applied by parents in raising their children. The data analysis identified the four most preferred parental coping strategies: religion, positive reframing, acceptance, and active coping whereas the least preferred coping strategies were humor, substance use, and behavior disengagement. Mothers and fathers in the study did not significantly differ in applying their coping strategies (p>.05). The study suggests health practitioners working with parents of patients affected with mosaic sex chromosome DSD to promote the religion, positive reframing, acceptance, and active coping strategies to facilitate a better acceptance of the affected children.

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Choi, Jin-Ho, and Han-Wook Yoo. "Differential Diagnosis of Disorders of Sex Development (DSD) by Molecular Genetic Analyses." Annals of Pediatric Endocrinology & Metabolism 17, no. 3 (2012): 137. http://dx.doi.org/10.6065/apem.2012.17.3.137.

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Tamet, J. Y. "Sur l’identité sexuelle, sa découverte dans les disorders of sex development (DSD)." Archives de Pédiatrie 19, no. 6 (June 2012): H284—H285. http://dx.doi.org/10.1016/s0929-693x(12)71254-x.

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Nihoul-Fékété, C. "How to Deal with Congenital Disorders of Sex Development in 2008 (DSD)." European Journal of Pediatric Surgery 18, no. 06 (December 2008): 364–67. http://dx.doi.org/10.1055/s-2008-1039203.

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Mekkawy, Mona, Alaa Kamel, Mona El-Ruby, Amal Mohamed, Mona Essawi, Hala Soliman, Nabil Dessouky, Marwa Shehab, and Inas Mazen. "Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD)." American Journal of Medical Genetics Part A 158A, no. 7 (May 24, 2012): 1594–603. http://dx.doi.org/10.1002/ajmg.a.35487.

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Rolston, Aimee M., Melissa Gardner, Kathleen van Leeuwen, Lauren Mohnach, Catherine Keegan, Emmanuèle Délot, Eric Vilain, and David E. Sandberg. "Disorders of sex development (DSD): Clinical service delivery in the United States." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 175, no. 2 (May 30, 2017): 268–78. http://dx.doi.org/10.1002/ajmg.c.31558.

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Mazur, Tom, Peggy T. Cohen-Kettenis, Walter J. Meyer, Heino F. L. Meyer-Bahlburg, and Kenneth J. Zucker. "Survey of HBIGDA Membership on Treatment of Disorders of Sex Development (DSD)." International Journal of Transgenderism 10, no. 2 (November 2007): 99–108. http://dx.doi.org/10.1080/15532730802182276.

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Audí, Laura, Silvano Bertelloni, and Christa E. Flück. "Molecular Aspects of Sex Development in Mammals: New Insight for Practice." International Journal of Molecular Sciences 21, no. 23 (November 30, 2020): 9146. http://dx.doi.org/10.3390/ijms21239146.

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García-Acero, Mary, Olga Moreno, Fernando Suárez, and Adriana Rojas. "Disorders of Sexual Development: Current Status and Progress in the Diagnostic Approach." Current Urology 13, no. 4 (2019): 169–78. http://dx.doi.org/10.1159/000499274.

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Disorders of sexual development (DSD) are conditions with an atypical chromosomal, gonadal or phenotypic sex, which leads to differences in the development of the urogenital tract and different clinical phenotypes. Some genes have been implicated in the sex development during gonadal and functional differentiation where the maintenance of the somatic sex of the gonad as either male or female is achieved by suppression of the alternate route. The diagnosis of DSD requires a structured approach, involving a multidisciplinary team and different molecular techniques. We discuss the dimorphic genes and the specific pathways involved in gonadal differentiation, as well as new techniques for genetic analysis and their diagnostic value including epigenetic mechanisms, expanding the evidence in the diagnostic approach of individuals with DSD to increase knowledge of the etiology.

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Maritska, Ziske, Bintang Arroyantri Prananjaya, Nita Parisa, and Rovania Yantinez Quardetta. "Profil Hormon Penderita Disorder of Sex Development (DSD) di RSUP. Dr. Mohammad Hoesin Palembang." Biomedical Journal of Indonesia: Jurnal Biomedik Fakultas Kedokteran Universitas Sriwijaya 5, no. 2 (May 31, 2019): 94–99. http://dx.doi.org/10.32539/bji.v5i1.7987.

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Selain berdasarkan temuan klinis, penentuan diagnosis Disorders of sex development (DSD) juga didukung oleh ragam pemeriksaan penunjang seperti analisis kromosom, radiologi, dan pemeriksaan laboratorium yang salah satunya berupa pemeriksaan kadar hormon. Pemeriksaan kadar hormon dapat memberikan gambaran fungsi gonadal dan adrenal, yang bermanfaat baik untuk penapisan dan juga penentuan diagnosis DSD. Studi yang bertujuan untuk mengidentifikasi profil hormon pasien DSD di Indonesia masih sangat minim, dan studi ini merupakan studi pertama yang meninjau profil hormon DSD di RSUP Dr. Mohammad Hoesin Palembang. Studi ini merupakan studi deskriptif menggunakan data sekunder dari rekam medik pasien DSD yang menjalani pemeriksaan hormon selama periode 2013-2017. Dari total 173 pasien DSD yang datang berobat ke RSUP Dr. Mohammad Hoesin Palembang selama lima tahun terakhir, hanya 22 (12.72%) pasien yang menjalani pemeriksaan hormon. Ada 13 profil hormon yang diperiksa pada pasien DSD di RSUP Dr. Mohammad Hoesin Palembang dengan hormon testosteron (54.54%) sebagai hormon yang paling sering diperiksa. Pemeriksaan profil hormon sebagai salah satu alat bantu penapisan dan penegakkan diagnosa DSD belum menjadi salah satu pemeriksaan penunjang yang umum dilakukan di RSUP Dr. Mohammad Hoesin Palembang.

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Ernst, Michelle M., Melissa Gardner, Constance A. Mara, Emmanuèle C. Délot, Patricia Y. Fechner, Michelle Fox, Meilan M. Rutter, et al. "Psychosocial Screening in Disorders/Differences of Sex Development: Psychometric Evaluation of the Psychosocial Assessment Tool." Hormone Research in Paediatrics 90, no. 6 (2018): 368–80. http://dx.doi.org/10.1159/000496114.

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Background/Aims: Utilization of a psychosocial screener to identify families affected by a disorder/difference of sex development (DSD) and at risk for adjustment challenges may facilitate efficient use of team resources to optimize care. The Psychosocial Assessment Tool (PAT) has been used in other pediatric conditions. The current study explored the reliability and validity of the PAT (modified for use within the DSD population; PAT-DSD). Methods: Participants were 197 families enrolled in the DSD-Translational Research Network (DSD-TRN) who completed a PAT-DSD during a DSD clinic visit. Psychosocial data were extracted from the DSD-TRN clinical registry. Internal reliability of the PAT-DSD was tested using the Kuder-Richardson-20 coefficient. Validity was examined by exploring the correlation of the PAT-DSD with other measures of caregiver distress and child emotional-behavioral functioning. Results: One-third of families demonstrated psychosocial risk (27.9% “Targeted” and 6.1% “Clinical” level of risk). Internal reliability of the PAT-DSD Total score was high (α = 0.86); 4 of 8 subscales met acceptable internal reliability. A priori predicted relationships between the PAT-DSD and other psychosocial measures were supported. The PAT-DSD Total score related to measures of caregiver distress (r = 0.40, p < 0.001) and to both caregiver-reported and patient self-reported behavioral problems (r = 0.61, p < 0.00; r = 0.37, p < 0.05). Conclusions: This study provides evidence for the reliability and validity of the PAT-DSD. Given variability in the internal reliability across subscales, this measure is best used to screen for overall family risk, rather than to assess specific psychosocial concerns.

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Listyasari, Nurin Aisyiyah, Iit Fitrianingrum, and Sultana MH Faradz. "A long-term follow-up of Sex Chromosomal Mosaicism Disorders of Sex Development." Journal of Biomedicine and Translational Research 5, no. 1 (July 31, 2019): 25. http://dx.doi.org/10.14710/jbtr.v5i1.4703.

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Background:Chromosomal mosaicism is characterized by the presence of two or more distinct cell lines in an individual. Mosaicism in sex chromosome is a major component of Disorders of Sex Development (DSD) results in a large clinical spectrum of genital ambiguity. Case Presentation:We report long term follow-up of a 15-year-old male who was evaluated for ambiguous genitalia with a karyotype of 46,XY (85%) / 46,XX (15%). He presented with abnormal urethral opening (hypospadias) and left sided undescended testis since birth. Work-up was done for cytogenetic analysis, hormonal assays, imaging, exploratory laparotomy, and hypospadias repair. For more than 15 years he was reared as a boy, with no further complaints, until he reached puberty. He then developed gynecomastia and monthly painful hematuria. MRI evaluation revealed a left adnexal cystic mass and anteflexed uterus with loculated fluid collection posterior to urinary bladder suggesting hematometra. We discuss the genetics, diagnostics, as well as genetic counseling of this patient. Conclusion: This case is reported in view of the interesting clinical presentation of this rare mosaicism. A strong emphasis on a multidisciplinary approach and close follow-up is important to ensure both physical and psychological well-being of DSD patients.

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Camats, Núria, Christa E. Flück, and Laura Audí. "Oligogenic Origin of Differences of Sex Development in Humans." International Journal of Molecular Sciences 21, no. 5 (March 6, 2020): 1809. http://dx.doi.org/10.3390/ijms21051809.

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Sex development is a very complex biological event that requires the concerted collaboration of a large network of genes in a spatial and temporal correct fashion. In the past, much has been learned about human sex development from monogenic disorders/differences of sex development (DSD), but the broad spectrum of phenotypes in numerous DSD individuals remains a conundrum. Currently, the genetic cause of less than 50% of DSD individuals has been solved and oligogenic disease has been proposed. In recent years, multiple genetic hits have been found in individuals with DSD thanks to high throughput sequencing. Our group has been searching for additional genetic hits explaining the phenotypic variability over the past years in two cohorts of patients: 46,XY DSD patients carriers of NR5A1 variants and 46,XY DSD and 46,XX DSD with MAMLD1 variants. In both cohorts, our results suggest that the broad phenotypes may be explained by oligogenic origin, in which multiple hits may contribute to a DSD phenotype, unique to each individual. A search for an underlying network of the identified genes also revealed that a considerable number of these genes showed interactions, suggesting that genetic variations in these genes may affect sex development in concert.

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Journal articles on the topic 'Disorders of sex development (DSD)'

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