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Journal articles on the topic 'Infantilismo sexual'

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1

Hassum Filho, Péricles A., Ismael D. C. Silva, and Ieda T. N. Verreschi. "O espectro das falências ovarianas ligadas ao cromossomo X." Arquivos Brasileiros de Endocrinologia & Metabologia 45, no. 4 (2001): 339–42. http://dx.doi.org/10.1590/s0004-27302001000400005.

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A falência ovariana manifesta-se clinicamente por amenorréia primária ou secundária, e do ponto de vista hormonal caracteriza-se pelos níveis elevados de gonadotrofinas hipofisárias, principalmente FSH, cuja etiologia pode ser atribuída a varias causas, como redução numérica ou rearranjos do cromossomo X, entre outras. Além da síndrome de Turner (monossomia do cromossomo X, com ou sem mosaicismo cromossômico), cujo principal estigma - a baixa estatura - e o infantilismo sexual apontam o diagnóstico, rearranjos do braço longo de X (Xq), ou mutações instaladas em genes mapeados neste cromossomo
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2

Trevisol-Bittencourt, P. C., and J. W. A. S. Sander. "Epilepsia e síndrome de turner apresentação de um caso e revisão da literatura." Arquivos de Neuro-Psiquiatria 48, no. 3 (1990): 360–65. http://dx.doi.org/10.1590/s0004-282x1990000300016.

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Henry Turner descreveu, em 1938, síndrome caracterizada por infantilismo sexual, pescoço alado e cubitus valgus. Disgenesia gonadal foi acrescentada à síndrome nos anos subsequentes e o critério exigido para sua confirmação diagnostica é a demonstração de cariótipo anormal, no qual é inexistente uma porção ou todos os de um cromossoma X. Ainda que nos dias atuais haja muita informação geral disponível sobre a síndrome de Turner, em relação a suas possíveis complicações neurológicas há inexplicável negligência. Nesta comunicação revemos o caso de uma paciente com esta síndrome, que desenvolveu
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3

Julanova, N., M. Julanov, S. Khizat, V. Stefanik, E. Kostyshyn, and A. Mautenbayev. "The prevention of infertility of mares." Scientific Messenger of LNU of Veterinary Medicine and Biotechnologies 20, no. 92 (2018): 178–81. http://dx.doi.org/10.32718/nvlvet9237.

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In the article it is noted that when the age of physiological maturity is reached, most of mares do not go hunting because of genital infantilism. The authors' studies showed that in the group where the repair filly had a systematic communication with the vasectomized stallions at 36 months of age, the reproductive apparatus was well developed, there were no signs of genital infantilism. All mares were found at the age of 36–37 months, and they became foal, at the mares of the control group at the indicated age the sexual cycles did not appear regularly, signs of genital infantilism were noted
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4

Hasanli, G. G. "Features of sexual development in girls with general and genital infantilism in the early reproductive period." Ukrainian journal of Perinatology and Pediatrics, no. 1(85) (March 29, 2021): 17–21. http://dx.doi.org/10.15574/pp.2021.85.17.

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Purpose — study of the severity of secondary sexual characteristics in girls with general and genital infantilism in the early reproductive period. Materials and methods. 150 girls with general and genital infantilism were examined. All examined girls underwent clinical, functional, hormonal, biochemical, radiological, genetic and laboratory tests. The average age of girls was 19.56±0.13 (17–22) years. The average weight of the examined was within 55.37±1.56 (32–98) kg, height 1.57±0.13 (1.36–1.71) m. The body-mass index was 22.5±0.48 (15–48). The severity of secondary sexual characteristics w
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5

Volevodz, N. N. "Federal clinical practice guidelines on the diagnostics and treatment of Shereshevsky-Turner syndrome." Problems of Endocrinology 60, no. 4 (2014): 65–76. http://dx.doi.org/10.14341/probl201460452-63.

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Shereshevsky-Turner syndrome is a chromosomal pathology related to partial or complete monosomia. Characteristic manifestations of this condition include growth retardation, sexual infantilism, and various inborn anomalies of the physical development. The present recommendations present information on etiology of this disease, its pre- and postnatal diagnostics, protocols of relevant studies and treatment of the patients belonging to different age groups.
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6

Moreno Coral, Claudia Ximena. "El derecho de los pederastas al olvido en Colombia." Revista UNIMAR 36, no. 2 (2019): 91–108. http://dx.doi.org/10.31948/unimar36-2.art6.

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Este artículo de reflexión es el resultado de la revisión analítica, interpretativa y crítica de los documentos, leyes y jurisprudencia relacionada con el derecho al olvido de los pederastas, la pedofilia y la pederastia, cumpliendo con los objetivos principales de clarificar los conceptos objeto de discusión y formular posibles alternativas frente a las escasas limitaciones para la vinculación al mercado laboral de quienes han sido condenados por delitos sexuales contra menores de catorce años. Mediante la utilización del tipo de investigación dogmática, descriptiva y de análisis estático de
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7

Janssen, Diederik F. "Stepchild of Psychoanalysis: ‘Paedophilia’ in Early Psychodynamic Thought." Psychoanalysis and History 20, no. 1 (2018): 59–87. http://dx.doi.org/10.3366/pah.2018.0246.

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Mainstream theorizing of paedophilia from the mid-1920s through to mid-1960, and even into the 1980s, was importantly psychodynamically oriented. The early history of the concept of paedophilia in early psychodynamic thought is problematic, however. Extant historical references are not without problems of their own, and have suffered from a lack of insight in the wider history of sexuality at this point of ‘erotic age preferences’. Review of primary sources highlights several contemporaneous interfaces of early psychodynamic theory: with the established forensic psychology of perpetrators of c
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8

Ito, Y., C. R. Fisher, F. A. Conte, M. M. Grumbach, and E. R. Simpson. "Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries." Proceedings of the National Academy of Sciences 90, no. 24 (1993): 11673–77. http://dx.doi.org/10.1073/pnas.90.24.11673.

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9

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.

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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
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10

Yang, Jasmine J., Claudia S. Caligioni, Yee-Ming Chan, and Stephanie B. Seminara. "Uncovering Novel Reproductive Defects in Neurokinin B Receptor Null Mice: Closing the Gap Between Mice and Men." Endocrinology 153, no. 3 (2012): 1498–508. http://dx.doi.org/10.1210/en.2011-1949.

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Patients bearing mutations in TAC3 and TACR3 (which encode neurokinin B and its receptor, respectively) have sexual infantilism and infertility due to GnRH deficiency. In contrast, Tacr3−/− mice have previously been reported to be fertile. Because of this apparent phenotypic discordance between mice and men bearing disabling mutations in Tacr3/TACR3, Tacr3 null mice were phenotyped with close attention to pubertal development, estrous cyclicity, and fertility. Tacr3−/− mice demonstrated normal timing of preputial separation and day of first estrus, markers of sexual maturation. However, at pos
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11

Benetti-Pinto, Cristina Laguna, Diama Vale, Heraldo Garmes, and Aloísio Bedone. "17-Hydroxyprogesterone deficiency as a cause of sexual infantilism and arterial hypertension: Laboratory and molecular diagnosis – a case report." Gynecological Endocrinology 23, no. 2 (2007): 94–98. http://dx.doi.org/10.1080/09513590601152185.

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12

Martin, Regina M., Paulo S. L. Oliveira, Elaine M. F. Costa, Ivo J. P. Arnhold, and Berenice B. Mendonca. "Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling." Arquivos Brasileiros de Endocrinologia & Metabologia 52, no. 8 (2008): 1317–20. http://dx.doi.org/10.1590/s0004-27302008000800018.

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Combined 17alpha-hydroxylase/17,20-lyase deficiency is a rare, autosomal recessive form of congenital adrenal hyperplasia characterized by the coexistence of hypertension, caused by the hyperproduction of mineralocorticoid precursors and DSD in males and sexual infantilism in females, due to impaired production of sex hormones. Several CYP17 mutations resulting in 17alpha-hydroxylase/17,20-lyase deficiency have been reported previously. In the present study, we described a novel CYP17 mutation in two Brazilian sisters with primary amenorrhea, 46,XY karyotype, high basal levels of progesterone
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13

Papi, Giampaolo, Rosa Maria Paragliola, Paola Concolino, Carlo Di Donato, Alfredo Pontecorvi та Salvatore Maria Corsello. "46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation ofCYP17A1Gene: Consequences of Late Diagnosis". Case Reports in Endocrinology 2018 (2018): 1–6. http://dx.doi.org/10.1155/2018/2086861.

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Context.Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease due to specific enzyme deficiencies in the adrenal steroidogenesis pathway.Case Description.A 40-year-old Chinese woman was referred to the Endocrine Unit for the work-up of a syndrome characterized by long-lasting and multidrug resistant high blood pressure, severe hypokalemia with metabolic alkalosis, and primary amenorrhea. The patient presented with sexual infantilism, lack of breast development, absence of axillary and pubic hair, tall stature, and slenderness. CT scan revealed enlarged adrenal glands bilateral
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14

Fedotov, S. V., E. E. Oleinikova, S. G. Yakovlev, and E. A. Mukha. "Determining the reproductive potential of repair heifers." Genetics and breeding of animals, no. 4 (January 7, 2021): 43–47. http://dx.doi.org/10.31043/2410-2733-2020-4-43-47.

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Reproduction and culling of productive animals are the main factors that affect the number of cows in a herd. Timely determination of fertility in replacement heifers with subsequent culling of problem heifers will help reduce direct economic losses in breeding dairy cattle. When making a diagnosis, veterinarians should exclude all forms of temporary or permanent infertility, including Congenital anomalies (infantilism, freemartinism, deformities, etc.).In order to establish the hormonal status of heifers-freemartin in the blood serum, the concentration of sex hormones (progesterone, estradiol
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15

Wijaya, Melati, Ma Huamei, Zhang Jun, et al. "Etiology of primary adrenal insufficiency in children: a 29-year single-center experience." Journal of Pediatric Endocrinology and Metabolism 32, no. 6 (2019): 615–22. http://dx.doi.org/10.1515/jpem-2018-0445.

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Abstract Background Primary adrenal insufficiency (PAI) in children is a rare condition and potentially lethal. The clinical characteristics are non-specific. It may be manifested as a chronic condition or crisis. The etiologies of PAI in children are different from the adult population. Therefore, diagnostic investigation becomes challenging. Methods A retrospective study was conducted at The First Affiliated Sun Yat Sen University Pediatric Endocrine unit between September 1989 and July 2016. Results A total of 434 patients (237 males, 197 females) were identified as having PAI. Congenital a
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16

Nazari, Majid, Mohammad Yahya Vahidi Mehrjardi, Nosrat Neghab, Mahdi Aghabagheri, and Nasrin Ghasemi. "A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report." International Journal of Reproductive BioMedicine, July 29, 2019. http://dx.doi.org/10.18502/ijrm.v17i6.4817.

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Background: Congenital adrenal hyperplasia is a rare autosomal recessive disorder where the mutation in P450 family 17 subfamily A member 1 gene (CYP17A1) is involved in its etiology. The disorder represents itself with low blood levels of estrogens, androgens, and cortisol that generally couples with hypertension, Hypokalemia, sexual primary amenorrhea, infantilism and in affected individuals.
 Case: In this study, the CYP17A1 gene in a 14-year-old female was examined. The karyotype of the patient was 46, XX, and the analysis of the CYP17A1 gene by Sanger sequencing revealed a novel homo
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17

Wang, Menglin, Hao Wang, Haiying Zhao та ін. "Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population". Clinical Hypertension 25, № 1 (2019). http://dx.doi.org/10.1186/s40885-019-0128-6.

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Abstract Background 17α-hydroxylase deficiency is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene. The major clinical presentation includes hypertension, hypokalemia, male pseudohermaphroditism and female gonadal dysplasia. Hundreds of pathogenic variants have been reported in this disorder, and some common mutations were found to be race-specific. Case presentation In this study, we reported 5 Chinese girls with 17α-hydroxylase deficiency from Henan Province. The patients all came to the hospital for hypertension, and they als
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18

De Seta, Gabriele. "“Meng? It Just Means Cute”: A Chinese Online Vernacular Term in Context." M/C Journal 17, no. 2 (2014). http://dx.doi.org/10.5204/mcj.789.

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Fig. 1: "Xiao Ming (little Ming) and xiao meng (little sprout/cutie)", satirical take on a popular Chinese textbook character. Shared online Introduction: Cuteness, Online Vernaculars, and Digital FolkloreThis short essay presents some preliminary materials for a discussion of the social circulation of contemporary Chinese vernacular terms among digital media users. In particular, I present the word meng (萌, literally "sprout", recently adopted as a slang term for "cute") as a case in point for a contextual analysis of elements of digital folklore in their transcultural flows, local appropriat
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