Results 71 to 80 of about 3,198 (197)

<italic>WT1</italic> Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis.

Sex Dev
Introduction: Diagnostic copy number variants (CNVs) have been detected in up to 30% of individuals with DSD. Tools have been developed to detect CNVs from exome/genome sequencing. Methods: Sequencing data from a cohort of individuals with DSD was re-analysed through a CNV-caller (Ximmer) after no diagnostic single nucleotide variants were identified ...
Atlas G, Bell KM, Robevska G, van den Bergen J, Hadiprajitno PI, Listyasari N, Santosa A, Juniarto AZ, Francis DI, O Apos Connell MA, Tan TY, Tucker E, Faradz SMH, Sinclair A, Ayers K.   +14 more
europepmc   +2 more sources

AMHR2 mutation in persistent Müllerian duct syndrome: A case of transverse testicular ectopia

UroPrecision, Volume 4, Issue 1, Page 64-68, March 2026.
Abstract Backgroud Persistent Müllerian duct syndrome (PMDS) is a rare condition characterized by the persistence of Müllerian duct structures in genotypic and phenotypic males. Case Presentation We present the case of a 4‐month‐old male with PMDS who presented with transverse testicular ectopia. The patient underwent diagnostic laparoscopic orchiopexy
Hangcheng Fu, Weijing Huang, Jeffrey T. White   +2 more
wiley   +1 more source

8568 Prevalence of Raised Blood Pressure in Individuals With 46,XY DSD: an I-DSD Registry study [PDF]

J Endocr Soc
Abstract Disclosure: A.K. Lucas-Herald: None. J. Bryce: None. M. Chen: None. C. Naotunna: None. M. Sepich: None. L. Tack: None. M. Cools: None. S. Poyrazoglu: None. E. Globa: None. M. Stancampiano: None. H.L. Claahsen-van der Grinten: None. T. Guran: None. Z. Yavas Abali: None. L. de Vries: None. S.E. Hannema: None. A. Guven: None.
Lucas-Herald, A K, Bryce, J, Chen, M, Naotunna, C, Sepich, M, Tack, L, Cools, M, Poyrazoglu, S, Globa, E, Stancampiano, M, Claahsen-van der Grinten, H L, Guran, T, Yavas Abali, Z, de Vries, L, Hannema, S E, Guven, A, Janus, D, AlShaikh, H A, Guazzarotti, L, Herrmann, G, Probst, U, Lenherr-Taube, N, Konrad, D, O’Reilly, M W, Steigert, M, Ucar, A, Wasniewska, M, Coco, R, Holterhus, P M, Schwitzgebel, V M, Ahmed, S F   +30 more
europepmc   +3 more sources

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

BMC Medical Genetics, 2012
Background The presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development (DSD)).
Hersmus Remko, Stoop Hans, Turbitt Erin, Oosterhuis J, Drop Stenvert LS, Sinclair Andrew H, White Stefan J, Looijenga Leendert HJ   +7 more
doaj   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, Volume 13, Issue 9, 13 February 2026.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Clinical Characteristics and Management of Two Cases of Complete Androgen Insensitivity Syndrome With Germ Cell Tumors

Cancer Reports, Volume 9, Issue 2, February 2026.
ABSTRACT Background Androgen insensitivity syndrome (AIS) is an X‐linked recessive genetic disorder caused by mutations in the androgen receptor (AR) gene, leading to androgen resistance and disorders of sex development (DSD) in 46, XY individuals. It is classified into three phenotypes: complete (CAIS), partial (PAIS), and mild (MAIS).
Fangming Wang, Dong Wang, Jianxing Li, Nianzeng Xing   +3 more
wiley   +1 more source

Non-Syndromic 46,XY Disorders of Sex Development

, 2018
Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group of disorders. We focus on the association between gene variants and the most frequent types of non-syndromic 46,XY DSD, options of molecular genetic ...
Banovcin P, Gecz J, Breza J
core   +1 more source

Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration

Reproductive Biology and Endocrinology, 2010
Background Primary amenorrhea due to 46,XY disorders of sex differentiation (DSD) is a frequent reason for consultation in endocrine and gynecology clinics.
Servant Nadège, Raingeard Isabelle, Lespinasse James, Frances Anne-Marie, Polak Michel, Thibaud Elisabeth, Zenaty Delphine, Leprieur Elodie, Philibert Pascal, Audran Françoise, Paris Françoise, Sultan Charles   +11 more
doaj   +1 more source

Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations

Problems of Endocrinology, 2020
Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Human mutations in SF1 were initially found in patients with severe gonadal dysgenesis and primary adrenal failure.
Natalia Yu. Kalinchenko, Anna A. Kolodkina, Nadezda Y. Raygorodskaya, Anatoly N. Tiulpakov   +3 more
openaire   +3 more sources

Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches

Clinical Endocrinology, Volume 104, Issue 2, Page 92-102, February 2026.
ABSTRACT Background Mixed gonadal dysgenesis (MGD) is a rare form of differences in sex development (DSD) typically associated with 45,X/46,XY mosaicism. The phenotypic presentation of MGD varies from atypical genitalia to typical male or female appearances often associated with Turner stigmata.
Dinesh Giri, Sushil Yewale, Hannah Hickingbotham, Cara Williams, Mohamed Shalaby, Julie Alderson, Julie Park   +6 more
wiley   +1 more source