Log in

Relevant bibliographies by topics / Streak gonads / Journal articles

To see the other types of publications on this topic, follow the link: Streak gonads.

Journal articles on the topic 'Streak gonads'

Author: Grafiati

Published: 7 June 2025

Last updated: 2 August 2025

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 50 journal articles for your research on the topic 'Streak gonads.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.

1

Verkauskas, Gilvydas, Diana Mačianskytė, Dainius Jančiauskas, Romualdas Preikša, Rasa Verkauskienė, and Francis Jaubert. "Diagnosis and management of 46,XY mixed gonadal dysgenesis and disorder of sexual differentiation." Medicina 45, no. 5 (2009): 357. http://dx.doi.org/10.3390/medicina45050045.

Full text

Abstract:

Objective. We present our experience in diagnosing, gender assignment, and surgical management of sexual ambiguity in 46,XY mixed gonadal dysgenesis. Material and methods. A retrospective study of five cases treated from 2003 to 2006 was performed. Clinical picture, operative findings, testosterone levels, and immunohistochemistry of gonads for the expression of FOXL2, SOX9, AMH, AMHr, C-kit, and PLAP were analyzed. Results. All patients had ambiguous genitalia, urogenital sinus, uterus, testicle on one side, and a streak gonad on the other. Four patients were reared as male and one as female.

APA, Harvard, Vancouver, ISO, and other styles

2

Bergeron, Mélanie Beaulieu, Nicole Lemieux, and Pierre Brochu. "Undifferentiated Gonadal Tissue, Y Chromosome Instability, and Tumors in XY Gonadal Dysgenesis." Pediatric and Developmental Pathology 14, no. 6 (2011): 445–59. http://dx.doi.org/10.2350/11-01-0960-oa.1.

Full text

Abstract:

Patients with XY gonadal dysgenesis are at increased risk of developing gonadal tumors. The etiology of several cases of XY gonadal dysgenesis remains unknown, but X/XY gonadal mosaicism has been hypothesized to play a role. At the histologic level, the presence of persistent primitive sex cords containing immature germ cells in dysgenetic gonads (an entity called undifferentiated gonadal tissue, or UGT) was recently described, and these immature germ cells are thought to be at risk of neoplastic transformation. To further investigate both these aspects, we retrospectively studied the gonads f

APA, Harvard, Vancouver, ISO, and other styles

3

Scolfaro, Márcia Ribeiro, Izilda Aparecida Cardinalli, Eliana Gabas Stuchi-Perez, et al. "Morphometry and Histology of Gonads From 13 Children With Dysgenetic Male Pseudohermaphroditism." Archives of Pathology & Laboratory Medicine 125, no. 5 (2001): 652–56. http://dx.doi.org/10.5858/2001-125-0652-mahogf.

Full text

Abstract:

Abstract Background.—Dysgenetic male pseudohermaphroditism (DMP) is a sexual differentiation disorder characterized by bilateral dysgenetic testes, persistent müllerian structures, and cryptorchidism in individuals with a 46,XY karyotype. However, the histologic criteria for the diagnosis of DMP are poorly established. Objective.—To determine gonadal histology in children with DMP. Patients and Methods.—Between 1996 and 1998, 13 patients with DMP were evaluated on our service. The clinical diagnosis of DMP was based on a 46,XY karyotype, sex ambiguity, high levels of follicle-stimulating hormo

APA, Harvard, Vancouver, ISO, and other styles

4

Trainavičius, Ignas, Darius Dasevičius, Birutė Burnytė, Robertas Kemežys, and Gilvydas Verkauskas. "Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature." Acta medica Lituanica 29, no. 2 (2022): 5. http://dx.doi.org/10.15388/amed.2022.29.2.5.

Full text

Abstract:

Background: Mixed gonadal dysgenesis is a rare congenital and challenging condition, characterized mainly by 45,X/46,XY karyotype mosaicism, asymmetrical gonadal development and various internal and external genital anatomy. Because of frequent disorder of genital development and a higher risk of germ cell neoplasia, management of these patients is complex and requires multidisciplinary approach.Case: We present a 45,X/46,XY mixed gonadal dysgenesis patient diagnosed with gonadoblastoma in both gonads after bilateral gonadectomy at 1 year of age.Conclusions: Because of high risk for malignant

APA, Harvard, Vancouver, ISO, and other styles

5

Doherty, Leo F., and Beth W. Rackow. "Abnormal streak gonads in 46,XY complete gonadal dysgenesis." Fertility and Sterility 96, no. 6 (2011): 1415–16. http://dx.doi.org/10.1016/j.fertnstert.2011.09.041.

Full text

APA, Harvard, Vancouver, ISO, and other styles

6

Sundaram, Vindhiya Kadambavana, Sundari Subramanian, Lakshmi Charan Chinumuthu, and Aishwarya Dharmanathan. "Frasier syndrome: A rare syndrome with WT-1 gene mutation." International Journal of Contemporary Pediatrics 4, no. 3 (2017): 1101. http://dx.doi.org/10.18203/2349-3291.ijcp20171736.

Full text

Abstract:

Frasier syndrome is a rare disorder of sex development. It is caused by mutation in Wilms’ tumor suppressor gene (WT-1) located in 11p23. This gene encodes a transcription factor involved in the development of kidney and gonads. The syndrome is characterized by female external genitalia in 46, XY patients, streak gonads with a higher risk of gonadal tumors, mainly gonadoblastoma. Nephropathy consists of nephrotic syndrome (NS) mainly due to focal segmental glomerular sclerosis (FSGS). NS presents early in childhood and responds poorly to steroid and immunosuppressive agents. Progression to End

APA, Harvard, Vancouver, ISO, and other styles

7

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 (2020): 181–92. http://dx.doi.org/10.1055/s-0039-3402101.

Full text

Abstract:

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 l

APA, Harvard, Vancouver, ISO, and other styles

8

Monni, Aleya Ferdush, Md Shafikul Islam, Md Faruque Pathan, Feroz Amin, and Faria Afsana. "Primary amenorrhea with Swyer syndrome: a rare case report." BIRDEM Medical Journal 10, no. 2 (2020): 130–32. http://dx.doi.org/10.3329/birdem.v10i2.47745.

Full text

Abstract:

Swyer syndrome with complete gonadal dysgenesis is associated with an absence of testicular differentiation in a phenotypic female with a 46, XY karyotype. The diagnosis is usually made at adolescence when primary amenorrhea is investigated. Here is an interesting case report of 18-year-old unmarried girl, who presented with primary amenorrhea and non-development of breasts. Her body built was musculin with broad shoulders, prominent Adam’s apple and deep voice. Examination of her secondary sexual charaistisctcs revealed no breast development, absent axillary hair and sparse pubic hairs with f

APA, Harvard, Vancouver, ISO, and other styles

9

Mandelberger, A., S. Mathews, V. Andikyan, and L. Chuang. "Laparoscopic Removal of Streak Gonads in Turner Syndrome." Journal of Minimally Invasive Gynecology 22, no. 6 (2015): S15. http://dx.doi.org/10.1016/j.jmig.2015.08.048.

Full text

APA, Harvard, Vancouver, ISO, and other styles

10

Mandelberger, Adrienne, Shyama Mathews, Vaagn Andikyan, and Linus Chuang. "Laparoscopic Removal of Streak Gonads in Turner Syndrome." Journal of Minimally Invasive Gynecology 23, no. 7 (2016): 1025. http://dx.doi.org/10.1016/j.jmig.2016.04.005.

Full text

APA, Harvard, Vancouver, ISO, and other styles

11

Mantan, M., GR Sethi, KK Singhal, and SK Aggarwal. "Megacystis, microcolon, intestinal hypoperistalsis syndrome and bilateral streak gonads." Indian Journal of Nephrology 21, no. 3 (2011): 212. http://dx.doi.org/10.4103/0971-4065.78075.

Full text

APA, Harvard, Vancouver, ISO, and other styles

12

Sathyamurthy, Kaavya, and Nilufer Moideen. "A laparoscopic management of Swyer syndrome in a woman with pure 46XY gonads and hypoplastic dysgenesis-a rare presentation." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 11, no. 2 (2022): 620. http://dx.doi.org/10.18203/2320-1770.ijrcog20220201.

Full text

Abstract:

Swyer syndrome is also known as complete/pure gonadal dysgenesis & is associated with an absence of testicular differentiation in a phenotypic female with a 46, XY karyotype. A 23-year-old married girl had come with complaints of primary infertility. She was averagely built & nourished. She had well developed secondary sexual characteristics like breast development, axillary hairs, and pubic hairs (Tanners stage 4) secondary to receiving HRT for getting menses. External genitalia was of female type. Karyotype showed genotype of 46, XY. Magnetic resonance imaging revealed hypoplastic ut

APA, Harvard, Vancouver, ISO, and other styles

13

Pin, Tan Wu, and Suhaimi Hussain. "LATE DIAGNOSIS OF OVO-TESTICULAR DISORDER." Journal of the ASEAN Federation of Endocrine Societies 40, S1 (2025): 147–48. https://doi.org/10.15605/jafes.040.s1.247.

Full text

Abstract:

INTRODUCTIONOvo-testicular disorder of sex development (OT-DSD), formerly known as true hermaphroditism is a rare condition characterized by the presence of both ovarian and testicular tissue in an individual. CASEA 16-year-old Malay, female, was initially referred at the age of 9 years for further evaluation of ambiguous genitalia. She was born with ambiguous genitalia and was raised as a female. However, the family defaulted follow-up due to logistic issues. She had no history to suggest adrenal crises or progressive skin hyperpigmentation. Clinically, she was short and underweight for age (

APA, Harvard, Vancouver, ISO, and other styles

14

Baer, Tamar G., Christopher E. Freeman, Claudia Cujar, et al. "Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk." Hormone Research in Paediatrics 88, no. 3-4 (2017): 291–97. http://dx.doi.org/10.1159/000477240.

Full text

Abstract:

Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromosome material has been observed in about 10% of patients. Y chromosome material in patients with Turner syndrome poses an increased risk of gonadoblastoma and malignant transformation. We report a woman with a diagnosis of Turner syndrome at 12 years of age, without signs of virilization, and karyotype reported as 46,X,del(X)(q13). At 26 years, cytogenetic studies indicated the patient to be mosaic for monosomy X and a cell line that contained a duplicated Yq chromosome. Bilateral gonade

APA, Harvard, Vancouver, ISO, and other styles

15

Nadkarni, Kishore. "Successful Conception and Delivery in an Unusual Case of 46,XY Pure Gonadal Dysgenesis with Spontaneous Breast Development, Menses, and Bilateral Hydrosalpinx." International Journal of Infertility & Fetal Medicine 7, no. 2 (2016): 58–60. http://dx.doi.org/10.5005/jp-journals-10016-1129.

Full text

Abstract:

Abstract Aim To study unusual presentations of 46XY pure gonadal dysgenesis (Swyer syndrome), implications of delayed diagnosis, importance of karyotype and early gonadectomy and pregnancy outcome with ART. Background To report a case of Swyer syndrome with spontaneous breast development, menses and bilateral hydrosalpinx with Successful pregnancy outcome. Case description 30 years old lady presented with primary infertility, secondary amenorrhea and normal secondary sexual characters. Sonography revealed small uterus with atrophic ovaries and B/L hydrosalpinx. Hormonal profile showed hypergon

APA, Harvard, Vancouver, ISO, and other styles

16

Soniya, Rasheed A., Yohannan Vargheese, and Antony Lillykutty. "Familial Swyer Syndrome." Journal of Obstetric, Gynaecological and Birth Nursing 3, no. 1 (2025): 34–37. https://doi.org/10.5281/zenodo.14626221.

Full text

Abstract:

<em>Familial Swyer syndrome (46, XY complete gonadal dysgenesis) is an uncommon condition marked by a female phenotype in individuals possessing a 46, XY karyotype. This syndrome arises from mutations in genes essential for testis development, particularly the SRY gene. Individuals affected by this condition typically exhibit streak gonads, which can result in absent or delayed puberty and infertility. The familial nature of this syndrome indicates a genetic component that extends beyond SRY, potentially involving autosomal or X-linked genes. Timely diagnosis is vital for the implementation of

APA, Harvard, Vancouver, ISO, and other styles

17

Berklite, Lara, Selma F. Witchel, Svetlana A. Yatsenko, Francis X. Schneck, and Miguel Reyes-Múgica. "Early Bilateral Gonadoblastoma Associated With 45,X/46,XY Mosaicism: The Spectrum of Undifferentiated Gonadal Tissue and Gonadoblastoma in the First Months of Life." Pediatric and Developmental Pathology 22, no. 4 (2019): 380–85. http://dx.doi.org/10.1177/1093526618824469.

Full text

Abstract:

45,X/46,XY mosaicism is one of a heterogenous group of congenital conditions known as differences (disorders) of sex development (DSD) that results in abnormal development of internal and external genitalia. Patients with DSD, particularly those with segments of the Y chromosome, are at increased risk for germ cell tumors including gonadoblastoma. Gonadoblastoma is a neoplasm comprised of a mixture of germ cells and elements resembling immature granulosa or Sertoli cells with or without Leydig cells or lutein-type cells in an ovarian type stroma. Gonadoblastoma has an increased prevalence of 1

APA, Harvard, Vancouver, ISO, and other styles

18

Chander, Aravind, Reshma Shri, Arun Muthuvel, and Chandralekha Veluswamy. "Rare case of complete gonadal dysgenesis 46 XY, Swyer syndrome." International Journal of Research in Medical Sciences 5, no. 2 (2017): 714. http://dx.doi.org/10.18203/2320-6012.ijrms20170181.

Full text

Abstract:

Swyer syndrome also known as 46XY complete gonadal dysgenesis is a rare cause of primary amenorrhea. These patients are phenotypically females with female type of internal and external genitalia with absence of testicular tissues. They have streak gonads which have increased potential to turn into malignancy. Bilateral gonadectomy should be done as soon as diagnosis is made. In present case, 20 years unmarried female came with complaints of menstrual bleeding only on taking medication. She never attained menarche, following which she was started on treatment outside, on withdrawal bleeding for

APA, Harvard, Vancouver, ISO, and other styles

19

Surico, Nicola, Michele Messina, Giorgio Ponzio, et al. "Limited diagnostic value of lymphocytic karyotype in primary amenorrhea with streak gonads." European Journal of Obstetrics & Gynecology and Reproductive Biology 26, no. 2 (1987): 145–50. http://dx.doi.org/10.1016/0028-2243(87)90049-9.

Full text

APA, Harvard, Vancouver, ISO, and other styles

20

Song, Mi Hyun, Byul Nim Ahn, Hae Kyung Kim, Hoon Kyu Oh, Tae Sung Lee, and Youn Seok Choi. "Laparoscopic gonadectomy of streak gonads within the inguinal canals in a patient with XY partial gonadal dysgenesis." Korean Journal of Obstetrics & Gynecology 55, no. 3 (2012): 209. http://dx.doi.org/10.5468/kjog.2012.55.3.209.

Full text

APA, Harvard, Vancouver, ISO, and other styles

21

Salas-Cortés, L., F. Jaubert, C. Nihoul-Feketé, R. Brauner, M. Rosemblatt, and M. Fellous. "SRY protein is expressed in ovotestis and streak gonads from human sex-reversal." Cytogenetic and Genome Research 91, no. 1-4 (2000): 212–16. http://dx.doi.org/10.1159/000056847.

Full text

APA, Harvard, Vancouver, ISO, and other styles

22

Krasna, Irwin H., Ming-Iiang Lee, Paul Smilow, Leonard Sciorra, and Lindsay Eierman. "Risk of malignancy in bilateral streak gonads: The role of the Y chromosome." Journal of Pediatric Surgery 27, no. 11 (1992): 1376–80. http://dx.doi.org/10.1016/0022-3468(92)90180-f.

Full text

APA, Harvard, Vancouver, ISO, and other styles

23

Soares, Henrique, Ana Maia, Miguel Campos, Sofia Dória, José Manuel Lopes, and Manuel Fontoura. "Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report." Sao Paulo Medical Journal 126, no. 5 (2008): 297–99. http://dx.doi.org/10.1590/s1516-31802008000500012.

Full text

Abstract:

CONTEXT: 45,X/46,Xidic(Y) mosaicism demands careful and thorough study because of both its variable clinical features and its potential complications. CASE REPORT: The present case relates to a three-year-old girl with the mosaic karyotype 46,X,idic(Y)(q11.2)[23]/45,X[6]. She had no signs of virilization or Turner's syndrome phenotype, but she was referred to our hospital because she presented reduced growth rate, abnormal facies and a melanotic nevus. After examination, she underwent prophylactic gonadectomy because of the risk of gonadoblastoma. Cytogenetic analysis on the streak gonads and

APA, Harvard, Vancouver, ISO, and other styles

24

Menon, Prameela, and Pooja Viswaraj. "A RARE CASE OF SECONDARY AMENORROHEA WITH SWEYERS SYNDROME: A CASE REPORT." International Journal of Advanced Research 10, no. 09 (2022): 933–36. http://dx.doi.org/10.21474/ijar01/15438.

Full text

Abstract:

Sweyers syndrome or pure gonadal dysgenesis is characterised by primary amenorrhea , presence of female phenotype, female external genitalia and female internal genitalia with hypoplastic uterus and streak gonads. A 16 year old girl presented with secondary amenorrhoea, she attained menarche at 11 years and was followed by 4 months of regular cycles thereafter developed two years of amenorrhea. On examination she is phenotypically female with no secondary sexual characteristics, external genitalia is female. Laboratory investigations showed a high level of serum follicle stimulating hormone, L

APA, Harvard, Vancouver, ISO, and other styles

25

Kogan, Evgeniya A., O. E. Ushakova, Yu N. Kur’yanova, N. M. Fayzullina, and O. K. Stupko. "Morphological features of female gonadal dysgenesis and karyotype in patients with Shereshevsky-Turner syndrome." V.F.Snegirev Archives of Obstetrics and Gynecology 3, no. 2 (2016): 87–91. http://dx.doi.org/10.18821/2313-8726-2016-3-2-87-91.

Full text

Abstract:

The aim of the work - the study of the morphological and immunophenotypic variants of the structure gonads in gonadal dysgenesis (GD) and karyotypic characteristics of patients with the Shereshevsky-Turner syndrome (SHTS). There were investigated the tissue samples of the removed gonads and ovaries from 16 SHTS patients with GD and 11 patients from the control group without SSHT whose ovaries had been removed due to parovarian cysts. The morphological study was executed with immunohistochemical typing of gonadal tissue with the detection of expression: Ki-67, Vimentin, Desmin, Inhibin A, ER (

APA, Harvard, Vancouver, ISO, and other styles

26

Fredette, Meghan E., Katelyn Cusmano, Chanika Phornphutkul, Jennifer Schwab, Anthony Caldamone, and Lisa Swartz Topor. "EARLY-ONSET GONADOBLASTOMA IN A 13-MONTH-OLD INFANT WITH 46,XY COMPLETE GONADAL DYSGENESIS IDENTIFIED WITH PRENATAL TESTING: A CASE OF CHROMOSOME 9p DELETION." AACE Clinical Case Reports 5, no. 6 (2019): e380-e383. http://dx.doi.org/10.4158/accr-2019-0285.

Full text

Abstract:

Objective: Individuals with 46,XY complete gonadal dysgenesis (CGD) are at high risk of developing gonadal neoplasms. Chromosome 9p monosomy with deletion of the DMRT1 gene, a key transcription factor in testicular development, is one of the known causes of 46,XY CGD. Noninvasive prenatal testing (NIPT) is being increasingly used, and can identify disorders of sexual development (DSDs). Methods: We report the case of a 46,XY infant with phenotypically female external genitalia, müllerian structures including uterus and fallopian tubes, and bilateral streak gonads who was found to have unilater

APA, Harvard, Vancouver, ISO, and other styles

27

Pandey, Yashaswi, Jyoti Jaiswal, Smriti Naik, and Pratibha Lambodari. "The hidden uterus in Swyer syndrome with gonadoblastoma: a diagnostic dilemma." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 11, no. 10 (2022): 2883. http://dx.doi.org/10.18203/2320-1770.ijrcog20222499.

Full text

Abstract:

Disorders of sex development (DSD) comprise a rare group of disorders in which genotype and phenotype are discordant. In 46 XY DSD, also known as Swyer syndrome, patients present a complete female phenotype and the 46 XY karyotype is usually identified during investigation for primary amenorrhea and/or delayed puberty. The risk of developing a gonadal tumor can be as high as 30%-40%. A 27-year-old phenotypically female with the complaints of primary amenorrhea with a pelvic mass presented to our setup. The case was approached applying the role of clinical, radiological and laboratory analyses.

APA, Harvard, Vancouver, ISO, and other styles

28

Heufelder, Armin E. "Gonads in trouble: follicle-stimulating hormone receptor gene mutation as a cause of inherited streak ovaries." European Journal of Endocrinology 134, no. 3 (1996): 296–97. http://dx.doi.org/10.1530/eje.0.1340296.

Full text

APA, Harvard, Vancouver, ISO, and other styles

29

Matsumoto, Fumi, Kenji Shimada, and Shinobu Ida. "Tumors of Bilateral Streak Gonads in Patients with Disorders of Sex Development Containing Y Chromosome Material." Clinical Pediatric Endocrinology 23, no. 3 (2014): 93–97. http://dx.doi.org/10.1297/cpe.23.93.

Full text

APA, Harvard, Vancouver, ISO, and other styles

30

Rivera, Yordanka Piña, and Godfrey Mutashambara Rwegerera. "A rare case of turner syndrome mosaicism in an African black woman." Case Reports in Internal Medicine 3, no. 4 (2016): 44. http://dx.doi.org/10.5430/crim.v3n4p44.

Full text

Abstract:

Turner syndrome (TS) is a chromosomal disorder caused by partial or complete absence of an X chromosome in at least one tissue of the body with about 50% of patients having a different chromosome formula. The 45, X/46, XY mosaicism variety is rare. We present a case of a 32-year-old black African female patient with a history of primary amenorrhea and clinical stigmata of TS without signs of virilization. The laboratory parameters were consistent with the characteristic hypergonadotropic hypogonadism found in Turner Syndrome. Laparoscopy showed streak gonads and hypoplastic uterus and the find

APA, Harvard, Vancouver, ISO, and other styles

31

Aljasser, Abdullah, and Norah Alsaleh. "PMON311 45,X/46,XY mixed gonadal dysgenesis: a case report from Saudi Arabia." Journal of the Endocrine Society 6, Supplement_1 (2022): A623. http://dx.doi.org/10.1210/jendso/bvac150.1292.

Full text

Abstract:

Abstract Introduction Mixed gonadal dysgenesis is a sex developmental disorder where the gonads are abnormal from there being some cells with XY chromosomes and some with just asingle X, known as chromosome Y mosaicism. This results in a wide range of male/female genitalia that are not typically, or clearly, male or female The case: 3 years old Saudi boy was born term to 35 year old G5P5 Normal anti natal and history of consanguinity. Birth weight 2 kilogram and found to have genital ambiguity in the form of short phallus structure and hypospiadius testis were felt at the right inguinal canal.

APA, Harvard, Vancouver, ISO, and other styles

32

Goyal, Manu, Shuchita Batra, Pratibha Singh, Shashank Shekhar, and Poonam Elhence. "Swyer syndrome with heterotopic adrenal cortical tissue in streak gonads: A rare case and review of literature." Journal of Human Reproductive Sciences 12, no. 4 (2019): 345. http://dx.doi.org/10.4103/jhrs.jhrs_44_19.

Full text

APA, Harvard, Vancouver, ISO, and other styles

33

Soo Kang, Kyung, Hyung Chul Lee, Hyun Jeong Kim, et al. "Spatial and temporal action of chicken primordial germ cells during initial migration." REPRODUCTION 149, no. 2 (2015): 179–87. http://dx.doi.org/10.1530/rep-14-0433.

Full text

Abstract:

In most animals, primordial germ cells (PGCs) originate from an extragonadal region and migrate across the embryo to the gonads, where they differentiate and function. During their migration, PGCs move passively by morphogenetic movement of the embryo or move actively through signaling molecules. To uncover the underlying mechanism of first-phase PGC migration toward the germinal crescent in chickens, we investigated the spatial and temporal action of PGCs during primitive streak formation. Exogenously transplanted PGCs migrated toward the anterior region of the embryo and the embryonic gonads

APA, Harvard, Vancouver, ISO, and other styles

34

Guaragna, Mara Sanches, Anna Cristina Gervásio de Britto Lutaif, Viviane Barros Bittencourt, et al. "Frasier syndrome: four new cases with unusual presentations." Arquivos Brasileiros de Endocrinologia & Metabologia 56, no. 8 (2012): 525–32. http://dx.doi.org/10.1590/s0004-27302012000800011.

Full text

Abstract:

Frasier syndrome (FS) is characterized by gonadal dysgenesis and nephropathy. It is caused by specific mutations in the Wilms' tumor suppressor gene (WT1) located in 11p23. Patients with the 46,XY karyotype present normal female genitalia with streak gonads, and have higher risk of gonadal tumor, mainly, gonadoblastoma. Therefore, elective bilateral gonadectomy is indicated. Nephropathy in FS consists in nephrotic syndrome (NS) with proteinuria that begins early in childhood and progressively increases with age, mainly due to nonspecific focal and segmental glomerular sclerosis (FSGS). Patient

APA, Harvard, Vancouver, ISO, and other styles

35

KELLY, T. E., S. S. WACHTEL, L. CAHILL, V. M. BARNABEI, K. WILLSON-SUDDATH та H. E. WYANDT. "X;Y Translocation in a Female with Streak Gonads, H-Y- Phenotype, and Some Features of Turnerʼs Syndrome". Obstetrical & Gynecological Survey 40, № 4 (1985): 245–46. http://dx.doi.org/10.1097/00006254-198504000-00016.

Full text

APA, Harvard, Vancouver, ISO, and other styles

36

Wei, J. Q., X. T. Zhou, and J. I. Wei. "Simultaneous measurement of eight corticosteroids by liquid chromatography, and application of the procedure to diagnosis of congenital adrenal hyperplasia." Clinical Chemistry 33, no. 8 (1987): 1354–59. http://dx.doi.org/10.1093/clinchem/33.8.1354.

Full text

Abstract:

Abstract We describe a liquid-chromatographic procedure for simultaneously determining eight steroids in serum. We used a Zorbax ODS column and a mobile phase of methanol/isopropanol/water (44/10/46, by vol), which well resolves the steroids cortisone, cortisol, corticosterone, 11-deoxycortisol, 11-deoxycorticosterone, androstenedione, 17-hydroxyprogesterone, and progesterone, but not 11-deoxycorticosterone and androstenedione. Analytical recoveries of the steroids ranged from 89.27% to 99.58%. CVs were less than 10%. Prednisone and dexamethasone do not interfere. Using this method, we studied

APA, Harvard, Vancouver, ISO, and other styles

37

Lang-Muritano, Mariarosaria, Patrick Sproll, Sascha Wyss та ін. "Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2)". Journal of Clinical Endocrinology & Metabolism 103, № 10 (2018): 3748–56. http://dx.doi.org/10.1210/jc.2018-00769.

Full text

Abstract:

Abstract Context Estrogen resistance due to mutations in the estrogen receptor α gene (ESR1) has been described in men and women and is characterized by osteoporosis, delayed bone age and continuous growth in adulthood, and delayed puberty and multiple ovarian cysts in women. Although mutations in the estrogen receptor β gene ESR2 were found in 46, XY patients with differences of sex development, no genetic variants of ESR2 were linked to gonadal defects in women. Settings and Patient Here we describe a 16-year-old female patient who came to our tertiary care hospital with complete lack of est

APA, Harvard, Vancouver, ISO, and other styles

38

Shahidan, Nurul Ain Shahirah, Per Ru Tan, and Sze Teik Teoh. "OCCULT MOSAICISM OF KARYOTYPING IN 45,X / 46,XY DSD." Journal of the ASEAN Federation of Endocrine Societies 40, S1 (2025): 157–58. https://doi.org/10.15605/jafes.040.s1.265.

Full text

Abstract:

INTRODUCTIONDisorder of sex development (DSD) with 45,X/46,XY mosaicism is a rare disorder. The prevalence is estimated to be less than 1:20,000. CASEA term baby, born with a good Apgar score at Hospital Sultan Abdul Halim. Genital examination showed atypical appearance with genital tubercle measuring 1.8 cm, bilateral labio-scrotal folds partially fused with single opening at perineum and no palpable gonads. External genitalia score (EGS) was 5/12. Ultrasound assessment revealed right inguinal lesion, equivocal for testis or inguinal hernia and small fluid-filled tubular structure posterior t

APA, Harvard, Vancouver, ISO, and other styles

39

Sá, Maria de Fátima Pereira de, Evelise Nunes Fragoso-Moura, Nelsy Fenerich-Verani, and Dagmar Aparecida de Marco Ferro. "Occurrence of intersexuality in " Lambaris" , Astyanax scabripinnis (Jenyns, 1842), small characids from the Brazilian streams." Brazilian Archives of Biology and Technology 51, no. 2 (2008): 315–22. http://dx.doi.org/10.1590/s1516-89132008000200011.

Full text

Abstract:

During studies carried out with a small characid (Astyanax scabripinnis), from the Brazilian streams located in Cerrado biome, some gonads of fishes exhibited sparse oocytes in perinucleolar stage embedded in normally developing testicular tissues. Another pattern of gonad intersex with vitellogenic oocytes and mature lobules was observed in the gonads of fishes collected from a reservoir supplied by the Atlantic Forest stream. These gonads in different stages of maturation were examined histologically. The results revealed the patterns occurring in fishes of the same species, from four differ

APA, Harvard, Vancouver, ISO, and other styles

40

Bano, Gul, Sahar Mansour, and Stephen Nussey. "The association of primary hyperparathyroidism and primary ovarian failure: a de novo t(X; 2) (q22p13) reciprocal translocation." European Journal of Endocrinology 158, no. 2 (2008): 261–63. http://dx.doi.org/10.1530/eje-07-0604.

Full text

Abstract:

Case: A 40-year-old female presented with primary amenorrhoea at 17 years of age. She was tall at 98th centile for height with eunuchoidal body habitus. Her breast development was Tanner stage 3, pubic and axillary hair Tanner stage 4 with normal external genitalia. Her bone age was 13.4 years at a chronological age of 17.8 years. Gonadotrophins were elevated indicating primary ovarian failure. A diagnostic laparotomy revealed hypoplastic, infantile uterus with bilateral streak gonads. Chromosomal analysis showed a balanced reciprocal translocation 46X, t(X; 2) (q22 p13). She became pregnant b

APA, Harvard, Vancouver, ISO, and other styles

41

Tak, Apoorva, Pratibha Singh, Garima Yadav, and Meenakshi Rao. "46XX pure gonadal dysgenesis with dysgerminoma along with leydig cells: a unique presentation." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 9, no. 6 (2020): 2619. http://dx.doi.org/10.18203/2320-1770.ijrcog20202361.

Full text

Abstract:

Authors report a unique case of 46XX gonadal dysgenesis, with dysgerminoma in one ovary and other streak ovary with hilar nests of leydig cells. It is exceptionally rare to find dysgerminoma in a dysgenetic gonad with no Y chromosome and so is the presence of leydig cells in the contralateral streak ovary in a patient with 46XX pure gonadal dysgenesis.

APA, Harvard, Vancouver, ISO, and other styles

42

Ravindranath, Yaddanapudi, Gerald Goyette, Steven Buck, et al. "A New Case of KLF1 G973A Mutation and Congenital Dyserythropoeitic Anemia (CDA)- Further Definition of Emerging New Syndrome and Possible Association with Gonadal Dysgenesis." Blood 118, no. 21 (2011): 2101. http://dx.doi.org/10.1182/blood.v118.21.2101.2101.

Full text

Abstract:

Abstract Abstract 2101 Arnaud et ala recently reported on two children with an as yet unclassified CDA, characterized by hemolytic anemia with high fetal hemoglobin (HbF), presence of embryonic hemoglobin Portland (HbPort) and absence on red blood cells (RBC) of CD44, an adhesion molecule, aquaporin 1 (AQP1) and the linked In(Lu) and Colton blood groups. The underlying molecular defect involves the erythroid transcription factor KLF1 with a mutation in zinc finger 2 at position 973 of Guanine to Adenine. The G973A mutation results in substitution of glutamate to lysine at position 325 in the t

APA, Harvard, Vancouver, ISO, and other styles

43

Choo, Min Jing, and Liang Wei Wong. "A RARE CASE OF TURNER MIMICKER." Journal of the ASEAN Federation of Endocrine Societies 40, S1 (2025): 57–58. https://doi.org/10.15605/jafes.040.s1.095.

Full text

Abstract:

INTRODUCTION/BACKGROUNDPrimary amenorrhea and delayed puberty are frequently encountered in primary care, prompting suspicion of Turner syndrome, especially in cases with short stature. This case underscores the importance of considering Swyer syndrome even when significant growth impairment is present. CASEA 28-year-old phenotypic female, born of a non-consanguineous union, presented with primary amenorrhea and a short stature of 1.31 meters. Physical examination revealed absent secondary sexual characteristics (Tanner stage 1). External genitalia were unambiguously female. Bone age assessmen

APA, Harvard, Vancouver, ISO, and other styles

44

Kasatkina, E. P., S. I. Kozlova, A. N. Prytkov, L. A. Tarskaya, R. S. Patyutko, and G. P. Lelikova. "Clinical and cytogenetic correlations in mixed gonadal dysgenesis." Problems of Endocrinology 42, no. 5 (1996): 26–30. http://dx.doi.org/10.14341/probl12086.

Full text

Abstract:

Clinical-karyotypical correlations have been analyzed in 36 patients with mixed gonadal dysgenesis. The minimal diagnostic signs have been determined: rudimentary uterus, uterine tube, split scrotum, perineal hypospadias, left streak gonad, testicular hypoplasia and scrotal localization of the testicle, and the most incident concomitant abnormalities. A comparative analysis of the distribution of signs in groups with different karyotype disorders has been carried out. The authors discuss the clinical variability of this abnormality on the basis of genetic approaches to the study of mixed gonad

APA, Harvard, Vancouver, ISO, and other styles

45

TB, Ahmend, Ha que ME, and Huq N. "Swyer Syndrome with Gonadoblastoma: A Case Report." Journal of Histopathology and Cytopathology 8, no. 01 (2024): 65–68. http://dx.doi.org/10.69950/jhc.2024.v8.i1.09.

Full text

Abstract:

These patients have female external phenotype and usually presented with primary amenorrhea.Detailed history, clinical, radiological and hormonal evaluation, karyotyping and histopathologyare needed for diagnosis. Due to the presence of Y chromosomes these patients have streak gonadswith increased risk of development of gonadoblastoma. Early diagnosis of Swyer syndromefollowed by prophylactic gonadectomy is very important. Case presentation: A 19-year-old female presented with the complaints of primary amenorrhea.The clinical, radiological, hormonal assessment and karyotyping test made the dia

APA, Harvard, Vancouver, ISO, and other styles

46

MacDonald, Gillian Z., Natacha S. Hogan, and Michael R. van den Heuvel. "Effects of habitat and pulp and paper mill contamination on a population of brook stickleback (Culaea inconstans)." Water Quality Research Journal 55, no. 1 (2019): 52–66. http://dx.doi.org/10.2166/wqrj.2019.005.

Full text

Abstract:

Abstract This study examined the responses of a population of brook stickleback (Culaea inconstans) exposed to pulp mill effluent at Jackfish Bay, Lake Superior, Canada, in May 2007 and May 2011. Brook stickleback were extirpated from the effluent-receiving site, presumably due to anoxia after this period. Females at the effluent-receiving site had significantly larger gonad sizes in 2007 and 2011. In 2011, effluent-exposed female gonadal development was significantly advanced when compared with reference sites; they were the second most mature when compared among three different reference sit

APA, Harvard, Vancouver, ISO, and other styles

47

Bösze, Péter, Magdolna Gaál, András Tóth, and János László. "Endometriosis and streak gonad syndrome." Archives of Gynecology 240, no. 4 (1987): 253–54. http://dx.doi.org/10.1007/bf02134076.

Full text

APA, Harvard, Vancouver, ISO, and other styles

48

Alam, Sarah, Hiya Boro, Alpesh Goyal, and Rajesh Khadgawat. "46, XY complete gonadal dysgenesis with pubertal virilisation due to dysgerminoma/gonadoblastoma." BMJ Case Reports 13, no. 7 (2020): e235501. http://dx.doi.org/10.1136/bcr-2020-235501.

Full text

Abstract:

Complete gonadal dysgenesis (CGD) or Swyer syndrome is characterised by sexual infantilism in a phenotypic female with 46, XY karyotype. Patients with gonadal dysgenesis and Y-chromosome material are at a high risk of developing gonadoblastoma and dysgerminoma. A 16-year-old girl presented with progressive virilisation, poor breast development and primary amenorrhea. On evaluation, she was found to have male-range serum testosterone, large abdominopelvic mass lesion, elevated germ cell tumour markers and 46, XY karyotype. She underwent surgical excision of left gonadal mass and right streak go

APA, Harvard, Vancouver, ISO, and other styles

49

Bosker, Thijs, L. Mark Hewitt, Kelly R. Munkittrick, Steven D. Melvin, and Deborah L. MacLatchy. "The Effects of Final Treated Effluent and In-Mill Waste Streams from a Canadian Thermomechanical Pulp and Paper Mill on Mummichog (Fundulus heteroclitus) Reproduction." Water Quality Research Journal 44, no. 4 (2009): 333–44. http://dx.doi.org/10.2166/wqrj.2009.034.

Full text

Abstract:

Abstract The effect on fish reproduction of final treated effluent from a thermomechanical pulp mill in Saint John, New Brunswick, Canada, was studied using mummichog (Fundulus heteroclitus), an endemic fish species of the Atlantic coast of North America. A 1997 artificial stream study at the same mill showed a reduction in gonad sizes in mummichog after a 28-day exposure to 3% final treated effluent. In 2005, we reevaluated final treated effluent, and conducted a toxicity source evaluation to identity waste stream sources within the mill that may cause reproductive effects. Relative to refere

APA, Harvard, Vancouver, ISO, and other styles

50

Bősze, P., I. Számel, F. Molnár, and J. László. "Nonneoplastic Gonadal Testosterone Secretion as a Cause of Vaginal Cell Maturation in Streak Gonad Syndrome." Gynecologic and Obstetric Investigation 22, no. 3 (1986): 153–56. http://dx.doi.org/10.1159/000298907.

Full text

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!