Results 1 to 10 of about 1,174,652 (161)

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes [PDF]

Frontiers in Endocrinology, 2018
Disorders of sex development (DSD) consist of a wide range of conditions involving numerous genes. Nevertheless, about half of 46,XY individuals remain genetically unsolved. GATA4 gene variants, mainly related to congenital heart defects (CHD), have also
Amit V Pandey, Idoia Martinez de Lapiscina Martin, Christa E Fluck   +2 more
exaly   +7 more sources

MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency. [PDF]

PLoS ONE, 2018
BACKGROUND:MIRAGE syndrome, a congenital multisystem disorder due to pathogenic SAMD9 variants, describes a constellation of clinical features including 46,XY disorders of sex development (DSD), small for gestational age (SGA) and adrenal insufficiency ...
Hirohito Shima, Mie Hayashi, Takashi Tachibana, Makoto Oshiro, Naoko Amano, Tomohiro Ishii, Hidenori Haruna, Maki Igarashi, Masafumi Kon, Ryuji Fukuzawa, Yukichi Tanaka, Maki Fukami, Tomonobu Hasegawa, Satoshi Narumi   +13 more
doaj   +3 more sources

Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing [PDF]

Orphanet Journal of Rare Diseases, 2021
Objective To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD). Subjects and methods: Genomic DNA was extracted from a Chinese 46, XY DSD patient.
Bingqing Yu, Yinjie Gao, Jiangfeng Mao, Xi Wang, Min Nie, Xueyan Wu   +5 more
doaj   +2 more sources

One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria [PDF]

Orphanet Journal of Rare Diseases, 2021
Background 46, XY disorders of sex development (46, XY DSD) are congenital disorders with 46, XY chromosomal karyotype but inconsistent gonadal/phenotypic sex. One of the biggest concerns for parents and clinicians is the gender assignment.
Liping Hou, Ming Zhao, Lijun Fan, Bingyan Cao, Jiajia Chen, Yonghua Cui, Michel Polak, Chunxiu Gong   +7 more
doaj   +2 more sources

A Likely Diagnosis of Familial Partial Androgen Insensitivity Syndrome in Three 46, XY Siblings With Ambiguous Genitalia: A Case Series [PDF]

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Familial partial androgen insensitivity syndrome is a rare cause of 46, XY disorder of sex development. It includes marked phenotypic variability, even among siblings. Persistent undervirilization despite normal androgen levels should prompt early multidisciplinary evaluation and counseling, especially where genetic testing is limited.
Tayyeb Ali, Muhammad Hassaan Javaid, Sibgha Fawad Memon, Zauha Fawad Memon, Munazza Iqbal, Sadia Afridi, Abdul Rahim Soroush, Adnan Iqbal Khan, Naseer Ahmad, Nayab Ayub Afridi, Zuhaib Ali   +10 more
wiley   +2 more sources

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

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   +2 more sources

Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis [PDF]

BMC Medical Genomics
Background The clinical phenotype and pathogenic mechanism of 46,XY disorders of sex development (DSD) are complex, and several pathogenic variants are identified by next-generation sequencing.
Cui Li, Binyu Yang, Xu Li, Shuai Zhen, Xiaogang Liu, Pingping Li, Wei Chen, Xiaoyan Wang, Mei Xue   +8 more
doaj   +2 more sources

Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing [PDF]

Orphanet Journal of Rare Diseases
Introduction Differences in sex development (DSD) with 46,XY karyotype are a group of rare congenital conditions affecting the structure and function of the urogenital system.
Ewa Błaszczyk, Małgorzata Więcek, Aleksandra Jazela-Stanek, Grzegorz Kudela, Tomasz Koszutski, Karolina Kowalczyk, Jagoda Sikora, Agnieszka Wiernik, Małgorzata Żarczyńska, Wiktoria Kempińska, Agnieszka Bielska-Brodziak, Aneta Gawlik-Starzyk   +11 more
doaj   +2 more sources

Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development

Biomolecules, 2023
Gonadal development is the first step in human reproduction. Aberrant gonadal development during the fetal period is a major cause of disorders/differences of sex development (DSD).
Atsushi Hattori, Maki Fukami
doaj   +1 more source

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development

Reproductive Biology and Endocrinology, 2023
Background Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression with a typical male ...
Khouloud Rjiba, Soumaya Mougou-Zerelli, Imen hadj Hamida, Ghada Saad, Bochra Khadija, Afef Jelloul, Wafa Slimani, Yosra Hasni, Sarra Dimassi, Hela Ben khelifa, Amira Sallem, Molka Kammoun, Hamza Hadj Abdallah, Moez Gribaa, Joelle Bignon-Topalovic, Sami Chelly, Hédi Khairi, Mohamed Bibi, Maha Kacem, Ali Saad, Anu Bashamboo, Kenneth McElreavey   +21 more
doaj   +1 more source