Results 81 to 90 of about 3,198 (197)

45,X/46,XY gonadal dysgenesis, 46,XX/46,XY chimerism (and variants), and 46,XX testicular and ovotesticular DSD

, 2019
45,X/46,XY gonadal dysgenesis occurs in around 1.5/10,000 conceptions. The clinical phenotype is highly variable; and features of Turner syndrome may be found to a variable extent in both males and females with this condition.
Cools, Martine, Martine Cools
core   +1 more source

Sexuality and fertility desire in a large cohort of individuals with 46, XY differences in sex development

, 2023
Objective: To analyze aspects of sexual life and fertility desire among 46, XY DSD people, including those who changed their gender. Methods: It is a cross-sectional study including 127 adults (> 16 years of age) with 46, XY DSD (83 ...
Rafael Loch Batista, Marlene Inácio, Bag, Min Jeong, Brito, Vinicius Nahime, Berenice Bilharinho Mendonca, Domenice, Sorahia, Inácio, Marlene, Gomes, Nathália Lisboa, Batista, Rafael Loch, Sircili, Maria Helena Palma, Mendonca, Berenice Bilharinho, Nathália Lisboa Gomes, Maria Helena Palma Sircili, Sorahia Domenice, Costa, Elaine Maria Frade, Vinicius Nahime Brito, Min Jeong Bag, Elaine Maria Frade Costa   +17 more
core   +1 more source

Advanced‐Stage Gonadal Dysgerminoma in a Patient With a Previous Diagnosis of Familial Swyer Syndrome: A Very Rare Genetic Entity

Case Reports in Medicine, Volume 2026, Issue 1, 2026.
Introduction Swyer syndrome is a genetic abnormality characterized by a 46,XY karyotype in a phenotypically female individual. Affected individuals typically have average or tall stature, unambiguous genitalia at birth, the presence of Müllerian structures, and bilateral streak gonads.
Süleyman Cemil Oğlak, Nilgün Söğütçü, Sedat Akgöl, Özgür Adıgüzel, Hümeyra Elif Ateş Eminoğlu, Gizem Güzel, Veysi Balcı, Emine Acar, Abdullah Acar, Fuat Bozan, Aneek Das Bhowmik   +10 more
wiley   +1 more source

Profile of DHX37 gene defects in human genetic diseases: 46,XY disorders of sex development

Frontiers in Endocrinology
The RNA helicase DHX37 gene is involved in ribosomal biological processes, and linked to human genetic diseases associated with 46,XY disorders of sex development (46,XY DSD) or neurodevelopment. Recently, relevant reports have primarily focused on 46,XY
Huifang Peng, Wenyuan Peng, Jiali Chen, Keyan Hu, Yingyu Zhang, Yujin Ma, Hongwei Jiang   +6 more
doaj   +1 more source

Chronic Obstructive Uropathy Complicating Complete Androgen Insensitivity Syndrome: A Case Report

Case Reports in Endocrinology, Volume 2026, Issue 1, 2026.
Complete androgen insensitivity syndrome (CAIS) is a rare X‐linked difference of sex development (DSD) caused by pathogenic variants in the androgen receptor (AR) gene, leading to complete androgen resistance. Diagnosis is often delayed in low‐resource settings due to a low index of suspicion and lack of access to diagnostic testing.
Brook Alemayehu Tesfaye, Getamesay Atnafu Adisu, Abeselom Lemma Gebreamlak, Paulos Efrem, Kibret Enyew Belay, Kalyani Sen   +5 more
wiley   +1 more source

Molecular and phenotypic features of premature ovarian failure (POF) cases in 46,XY DSD families with NR5A1 mutations.

, 2013
aAll mutations are heterozygous except for c.877G>A (p.D293N).46, XY DSD: 46, XY disorder of sex development; PA: primary amenorrhea; SA: secondary amenorrhea; LBD: ligand binding domain.
Xue Jiao (461117), Li You (124396), Joe Leigh Simpson (461121), Yingying Qin (461118), Guangyu Li (288510), Zi-Jiang Chen (130783), Shidou Zhao (461119), Jinlong Ma (461120)   +7 more
core   +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

StAR Protein Deficiency in Clinical Practice: A Case Series From Saudi Arabia

Case Reports in Endocrinology, Volume 2026, Issue 1, 2026.
Objectives Steroidogenic acute regulatory (StAR) protein deficiency is a rare autosomal recessive disorder that disrupts steroid hormone biosynthesis, resulting in congenital adrenal hyperplasia (CAH) and variations in sexual development. However, limited data is available in Saudi Arabia.
Abeer Alabduljabbar, Dania Farooq, Sara Abid, Sara Aljazaeri, Raghad Alhuthil, Afaf Alsagheir, Kalyani Sen   +6 more
wiley   +1 more source

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

, 2009
OBJECTIVE. Hypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are ...
Mazen, I., Achermann, J.C., Rossi, R., Akkurt, I., Köhler, B., Cetindag, C., Biebermann, H., Grüters, A., Lin, L., Hiort, O.   +9 more
core  

Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD

Journal of Clinical Endocrinology and Metabolism
Franziska Phan-Hug, Corina Lichiardopol, Gianni Russo   +2 more
exaly   +2 more sources