Results 51 to 60 of about 5,346 (170)

A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. [PDF]

PLoS ONE, 2012
Patients with Disorders of Sex Development (DSD), especially those with gonadal dysgenesis and hypovirilization are at risk of developing malignant type II germ cell tumors/cancer (GCC) (seminoma/dysgerminoma and nonseminoma), with either carcinoma in ...
Remko Hersmus, Yvonne G van der Zwan, Hans Stoop, Pascal Bernard, Rajini Sreenivasan, J Wolter Oosterhuis, Hennie T Brüggenwirth, Suzan de Boer, Stefan White, Katja P Wolffenbuttel, Marielle Alders, Kenneth McElreavy, Stenvert L S Drop, Vincent R Harley, Leendert H J Looijenga   +14 more
doaj   +1 more source

Genetically Confirmed Osteogenesis Imperfecta (COL1A1) With Unexplained Ambiguous Genitalia in a 46,XY Child: An Index Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
A 6‐year‐old child with a rare dual diagnosis confirmed by genetic testing ‐ osteogenesis imperfecta (blue sclerae, disproportionate short stature) and concurrent 46,XY disorder of sex development (micropenis, hypospadias, impalpable gonads). ABSTRACT Osteogenesis imperfecta (OI) is a heritable disorder of type I collagen characterized by bone ...
Harshita Agarwal, Tathagata Jha, Mohammad Orooj Azmi, Soumita Sarkar, Vinay Suresh   +4 more
wiley   +1 more source

Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea

Iranian Journal of Medical Sciences, 2017
Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner ...
Zahra Razavi, Hossein Emad Momtaz
doaj  

Müllerian Agenesis Presenting as Primary Amenorrhea in a 16‐Year‐Old Girl From a Low‐Resource Setting in Bangladesh: Psychological Impact and Multidisciplinary Management

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Müllerian agenesis (MRKH syndrome) causes primary amenorrhea in phenotypically normal females. We report a 16‐year‐old girl with normal secondary sexual characteristics, a short blind vagina, absent uterus on ultrasonography, and a 46,XX karyotype.
Iftekhar Ahmed Sakib, Musarrat Sultana Shumi, Rozina Sultana, Ayesa Perveen, Nishad Tasnim, Shirazum Munira   +5 more
wiley   +1 more source

Mixed gonadal dysgenesis with normal karyotype : A rare case report

Indian Journal of Pathology and Microbiology, 2010
Mixed gonadal dysgenesis (MGD) presents as a unilateral testis, usually intraabdominal, a streak gonad on contralateral side, and persistent mullerian structures.
Anand Ajay, Gupta Narmada, Singh M, Mathur Sandeep, Nayyar Rishi   +4 more
doaj  

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

Azoospermia, Atrophy, and Asymmetry: Unilateral Sertoli Cell Tumor as a Rare and Overlooked Cause of Male Infertility: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Sertoli cell tumors are uncommon sex‐cord stromal tumors making up < 2% of testicular tumors and have been reported to be associated with endocrine dysfunction that could compromise male fertility. Herein, we present a 34‐year‐old Pakistani male with primary infertility, azoospermia, enlargement of right testis, and contralateral severe ...
Rao Nouman Ali, Wajiha Irfan, Sohaib Irfan, Masroor Ahmed Khan, Maria Bibi, Umair Ali, Muhammad Hassaan Javaid, Christian Tague   +7 more
wiley   +1 more source

Amenorrea primaria y disgerminoma en una paciente con disgenesia gonadal pura, reporte de caso

Revista Colombiana de Endocrinología, Diabetes y Metabolismo, 2017
La amenorrea primaria representa un reto diagnóstico para el médico general y especialista, dado que el espectro etiológico es amplio y se requiere de un adecuado enfoque para garantizar una correcta orientación terapéutica.
Diego Armando Guerrero Gómez, Yessica Agudelo Zapata, Hector Sandoval Alzate, Luis Maldonado Acosta, Juan Manuel Arteaga Díaz, Roberto Franco Vega   +5 more
doaj   +1 more source

Malignant Leydig Cell Tumor in Elderly Complete Androgen Insensitivity Patient: A Case Report

Journal of Nepal Medical Association, 2019
There are various cause of Primary amenorrhea in phenotypically females such as, complete androgen insensitivity syndrome, pure gonadal dysgenesis, 17b-hydroxysteroid dehydrogenase deficiency, or mixed gonadal dysgenesis.
Sundar Shrestha, Niroj Banepali, Rakesh Sthapit, Dipesh Agrawal   +3 more
doaj   +1 more source

Cryptorchidism: Novel genetic insights into CCDC149 mutations

Andrology, Volume 14, Issue 5, Page 1155-1163, July 2026.
Abstract Background Cryptorchidism, characterized by the failure of one or both testes to descend into the scrotum, is a common congenital condition that can lead to infertility and increased risk of testicular cancer. CCDC149, a coiled‐coil domain‐containing protein, has been implicated in various developmental processes, but its role in the male ...
Shengrong Du, Shan Xu, Lei Yang, Yan Ye, Yuhan Wu, Ziyun Xiao, Xiuqing Dong, Wenliang Yao, Hua Li   +8 more
wiley   +1 more source