Results 61 to 70 of about 2,312 (175)

Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis

Brazilian Journal of Medical and Biological Research, 2005
The WT1 transcription factor regulates SRY expression during the initial steps of the sex determination process in humans, activating a gene cascade leading to testis differentiation.
E.B. Tagliarini, J.G. Assumpção, M.R. Scolfaro, M.P. de Mello, A.T. Maciel-Guerra, G. Guerra Júnior, C. Hackel   +6 more
doaj   +1 more source

Delayed Bone Maturation and Extended Growth Phase as Distinctive Features of 17α‐Hydroxylase/17,20‐Lyase Deficiency: A Retro‐Prospective Study of a Large Patient Cohort

Clinical Endocrinology, Volume 103, Issue 3, Page 303-310, September 2025.
ABSTRACT Introduction Worldwide, combined 17‐hydroxylase/17,20‐lyase deficiency (CYP17D) is a rare form of congenital adrenal hyperplasia, but it is the second most prevalent type in Brazil. An absence of sexual differentiation and hypergonadotropic hypogonadism arise from a reduction in the usual pattern of sex steroid formation in the adrenals and ...
Rafaela Fontenele, Flávia A. Costa‐Barbosa, Marivânia Costa‐Santos, Rafael L. Batista, Lívia M. Mermejo, Berenice B. Mendonça, Margaret de Castro, Gil Guerra‐Júnior, Claudio E. Kater, Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group (BCAHMSG)   +9 more
wiley   +1 more source

Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism

BMC Pediatrics, 2019
Background The aim of this study was to review the growth data, gonadal function and tumour risk of children and adolescents with 45,X/46,XY mosaicism who presented to a single centre in China.
Lili Pan, Zhe Su, Jianming Song, Wanhua Xu, Xia Liu, Longjiang Zhang, Shoulin Li, on behalf of the multidisciplinary collaboration team of DSD management at Shenzhen Children’s Hospital   +7 more
doaj   +1 more source

Sertoli cell tumor associated with ovarian sex cord tumor with annular tubules in a patient with 46 XY disorder of sex development and 9p24.3 deletion, case report

Journal of Obstetrics and Gynaecology Research, Volume 51, Issue 8, August 2025.
Abstract We report a rare case involving a 22‐year‐old phenotypically female patient who presented to our care with primary amenorrhea and spontaneous breast development. Hormonal analysis indicated hypergonadotropic hypogonadism, and imaging revealed a hypoplastic uterus and calcified ovaries.
Tabatha Petrillo, Christian Battipaglia, Elisa Semprini, Cinzia Baldessari, Marta Pirola, Olga Calabrese, Antonino Farulla, Giliana Ternelli, Albino Eccher, Laura Botticelli, Alessandro D. Genazzani   +10 more
wiley   +1 more source

Genomic technologies and the diagnosis of 46, XY differences of sex development

Andrology, Volume 13, Issue 5, Page 1025-1043, July 2025.
Abstract Differences/disorders of sex development can be caused by disruptions to the molecular and cellular mechanisms that control development and sex determination of the reproductive organs with 1:100 live births affected. Multiple genes are associated with 46, XY differences/disorders of sex development that can cause varying clinical phenotypes ...
Firman Idris, Andrew H. Sinclair, Katie L. Ayers   +2 more
wiley   +1 more source

Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population

BMC Endocrine Disorders, 2017
Background dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD).
Robert Röhle, Katharina Gehrmann, Maria Szarras-Czapnik, Hedi Claahsen-van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler, on behalf of the dsd-LIFE group   +10 more
doaj   +1 more source

Molecular genetic diagnosis and surgical management in a cohort of children with 46,XY disorders/differences of sex development

Frontiers in Pediatrics
ObjectiveA firm diagnosis revealing the etiology of disorders/differences of sex development (DSD) is most helpful in guiding clinical management. The aim of this study is to investigate molecular genetic diagnoses and surgical treatment in a cohort of ...
Yuenshan Sammi Wong, Yuenshan Sammi Wong, Ho Ming Luk, Ho Chung Yau, Lap Ming Wong, Sarah Wing Yiu Poon, Joanna Yuet Ling Tung, Yuk Him Tam, Yuk Him Tam   +8 more
doaj   +1 more source

Seedless orchids: Issues in the anorchid adult

Indian Journal of Endocrinology and Metabolism, 2013
Disorders of sexual differentiation (DSD) are among the challenging problems in the field of endocrinology. When presenting late in an adult the therapeutic as well as diagnostic issues may be different and difficult. Bilateral anorchia is rare.
Shaikh Altamash, K. V. S Hari kumar
doaj   +1 more source

Mixed gonadal dysgenesis in Yaoundé: A preliminary experience about three cases

African Journal of Paediatric Surgery, 2016
Mixed gonadal dysgenesis is characterised by unilateral chromosomal abnormality, which is probably the result of anaphase lag during mitosis. The 45, XO/46, XY karyotype is the most common form of mosaicism involving the Y chromosome.
F F Mouafo Tambo, S Dahoun, C Kamadjou, A S Nwaha Makon, G Fossi, O G Andze, M A Sosso, P Y Mure   +7 more
doaj   +1 more source

Etiology and management of primary amenorrhoea: A study of 102 cases at tertiary centre

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: To determine the prevalence of etiologic causes of primary amenorrhea in Indian population. Materials and methods: A retrospective study was performed using 102 complete medical records of women with primary amenorrhea who attended the ...
Alka Kriplani, Manu Goyal, Garima Kachhawa, Reeta Mahey, Vidushi Kulshrestha   +4 more
doaj   +1 more source