Results 51 to 60 of about 2,312 (175)

Burden of Liver Disease Among Individuals With Turner Syndrome and Klinefelter Syndrome: A Comprehensive Perspective

Chronic Diseases and Translational Medicine, Volume 12, Issue 1, Page 39-48, March 2026.
ABSTRACT The liver is increasingly recognized as a major regulator of systemic cardio‐renal‐metabolic health. Evidence is mounting that sex‐chromosome dosage per se itself, independent of gonadal sex hormones, modulates hepatic physiology and liver disease risk.
Mohamad Jamalinia, Amedeo Lonardo, Ralf Weiskirchen   +2 more
wiley   +1 more source

A De Novo Mutation (c.2423A>G) in SAMD9 Causing MIRAGE Syndrome With Intrauterine Growth Retardation and Renal Hypoplasia in a Chinese Family

Human Mutation, Volume 2026, Issue 1, 2026.
Background and Aims MIRAGE syndrome is an autosomal‐dominant genetic disease primarily caused by a de novo mutation in the gene SAMD9 gene. This study is aimed at investigating the pathogenesis of MIRAGE syndrome through a Chinese case exhibiting intrauterine growth retardation and renal hypoplasia.
Yuxin Huang, Jiahui Fu, Zhongzhi Gan, Fu Xiong, Honglei Zhu, Fang Yang, Priya Gusain   +6 more
wiley   +1 more source

A Novel PPP1R12A Splice‐Site Variant Identified in a Female Fetus With Perineal Hamartoma

Prenatal Diagnosis, EarlyView.
Shiyu Chen, Xi Tan
wiley   +1 more source

Intestinal Atresia in PPP1R12A ‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder

Case Reports in Endocrinology
Summary. Disorders of sexual differentiation are defined as congenital alterations between chromosomal, gonadal, and phenotypic sex. The principal cause of these disorders is an adrenal origin; however, there are infrequent causes, such as congenital ...
Raúl Villanueva Rodríguez, Alberto Vielma Valdez, Maricruz Cassou Martinez, Laura Leticia Pérez Corrales, Ramón G. de los Santos Aguilar, Luis David Sol Oliva   +5 more
doaj   +1 more source

Gonadal dysgenesis 46,XY DSD associated with variants in the MAP3K1 gene

Problems of Endocrinology, 2020
Disorders of sex development (DSDs) are congenital conditions in which phenotype does not correspond to chromosomal and gonadal sex. To date, the etiology of DSD is established only in half of the cases. With the development of modern methods of molecular genetic diagnostics in the last decade, a number of new regulators of gonad differentiation have ...
N. Y. Kalinchenko, A. N. Tiulpakov
openaire   +3 more sources

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

Turner Syndrome With 45,X/46,XX Mosaicism and a Derivative X Chromosome (Xqter → Xq13?::Xp11.4 → Xqter): A Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Chinese female with 45,X/46,XX mosaicism and der(X) (Xqter → Xq13?::Xp11.4 → Xqter). SHOX deletion (41.25 Mb) and PLP1 duplication (111.4 Mb) linked to growth/neuro risks. Integrated karyotyping, MLPA, microarray, and STR analysis revealed cryptic X‐chromosome rearrangements, guiding precise breakpoint mapping.
Weijun Jiang, Tingting Ji, Qiuyue Wu, Zhipeng Xu, Xinyi Xia   +4 more
wiley   +1 more source

Biology and Management of Male‐Bodied Athletes in Elite Female Sports

Drug Testing and Analysis, Volume 17, Issue 9, Page 1703-1714, September 2025.
Graphical representation of the relationships of transgender and XY DSDF as male‐bodied athletes along the binary dimensions of biological sex. ABSTRACT The physical advantages in elite power sports that allow men to surpass women are derived from the experience of male puberty.
David J. Handelsman, Stéphane Bermon
wiley   +1 more source

Seminoma in 46, XY Gonadal Dysgenesis: Rare Presentation and Review of the Literature

JCRPE
Swyer syndrome is a rare congenital condition that serves as a risk factor for developing germ cell tumors. The condition belongs to the group of 46, XY disorders of sexual development, is characterized by complete gonadal dysgenesis (CGD) and is mostly ...
Maamoun Adra, Hayato Nakanishi, Eleni Papachristodoulou, Evangelia Karaoli, Petroula Gerasimou, Antri Miltiadous, Katerina Nicolaou, Loizos Loizou, Nicos Skordis   +8 more
doaj   +1 more source