Results 41 to 50 of about 9,016 (186)

Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects [PDF]

, 2016
Virilisation of the XX foetus is the result of androgen excess, resulting most frequently from congenital adrenal hyperplasia in individuals with typical ovarian differentiation.
Rodolfo A. Rey, Grinspon, Romina, Rey, Rodolfo Alberto, Romina P. Grinspon   +3 more
core   +1 more source

A Rare Case of 46, XX (SRY+) With Normal Male Stature and Unilateral Absence of the Vas Deferens

Journal of Family and Reproductive Health, 2021
Objective: This study aimed to investigate the cause of primary infertility in a rare case with unilateral absence of vas deferens. Case report: A 35-year-old man was presented to the Infertility Clinic at the National Center of Maternal and Child ...
Ganbayar Batmunkh, Purevtogtokh Myagmartseren, Tuul Bayarsaikhan, Tserendagva Dalkh, Munkhtuya Tumurkhuu   +4 more
doaj   +1 more source

Supplementary Material for: Phenotypic Variation in 46,XX Disorders of Sex Development due to the 4th Zinc Finger Domain Variant of WT1 : A Familial Case Report

, 2023
Introduction: The variants in the zinc finger (ZF) domains 1–3 in WT1 are one of the major causes of 46,XY disorders of sex development. Recently, the variants in fourth ZF (ZF4 variants) were reported to cause 46,XX DSD.
Kirino S. (14634815), Yamano H. (14634830), Iemura R. (14634827), Kashimada K. (14634845), Mori T. (2879726), Kanamori T. (14634833), Uchida S. (6382241), Morio T. (14634842), Takasawa K. (14634839), Adachi E. (4146583), Sohara E. (6382238), Okamoto K. (3908857), Nakatani H. (14634821), Gau M. (14634824), Udagawa T. (14634836), Yogi A.G. (14634818)   +15 more
core   +1 more source

Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).

, 2015
International audienceDisorders of Sex Development (DSD) are a heterogeneous group of disorders affecting gonad and/or genito-urinary tract development and usually the endocrine-reproductive system. A genetic diagnosis is made in only around 20% of these
Sandra Chantot‐Bastaraud, Sandra Rojo, Radu Harbuz, Matthieu Peycelon, Nicolas Perrot, Perrot, Nicolas, Piguel, Xavier, Hyon, Capucine, Chantot-Bastaraud, Sandra, Mcelreavey, Ken, Bhouri, Rakia, Peycelon, Matthieu, Bashamboo, Anu, Sibony, Mathilde, Rojo, Sandra, Harbuz, Radu, Capucine Hyon, Xavier Piguel, Gilbert-Dussardier, Brigitte, Frederic Bilan, Brigitte Gilbert‐Dussardier, Bilan, Frederic, Alain Kitzis, Mathilde Sibony, Kitzis, Alain, Rakia Bhouri, Anu Bashamboo, Ken McElreavey, Jean‐Pierre Siffroi, Siffroi, Jean-Pierre   +29 more
core   +1 more source

Oligogenic Origin of Differences of Sex Development in Humans. [PDF]

, 2020
Sex development is a very complex biological event that requires the concerted collaboration of a large network of genes in a spatial and temporal correct fashion.
Audí, Laura, Núria Camats, Flück, Christa E, Camats, Núria, Christa E Flück, Laura Audí   +5 more
core   +1 more source

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

Orphanet Journal of Rare Diseases, 2020
Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteristics and a ...
Morten Krogh Herlin, Michael Bjørn Petersen, Mats Brännström   +2 more
doaj   +1 more source

Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association [PDF]

Endocrinology, Diabetes & Metabolism Case Reports, 2018
Summary A 40-year-old man with achondroplasia presented with symptoms of hypogonadism, low libido and gynaecomastia. He was found to have hypergonadotropic hypogonadism, and karyotype and fluorescent in situ hybridisation analysis showed SRY-positive 46, XX disorder of sex development (DSD).
Du, Yang Timothy, Rutter, Angus, Ho, Jul
openaire   +4 more sources

Gonadal tumor development in 46, XX disorders of gonadal development

, 2022
Background: Differences/disorders of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical.
Berensztein, Esperanza Beatriz, Ramirez, Pablo, Galluzzo Mutti, María Laura, Mattone, María Celeste, Belgorosky, Alicia, Guercio, Gabriela Viviana, Ciaccio, Marta Graciela Cristina, Marino, Roxana Marcela, Garrido, Natalia Pérez, Touzon, María Sol, Vaiani, Elisa, Costanzo, Mariana, Bailez, María Marcela   +12 more
core   +1 more source

Clinical, etiological and laboratory profile of children with disorders of sexual development (dsd)-experience from a tertiary pediatric endocrine unit in western India

Indian Journal of Endocrinology and Metabolism, 2021
Objectives: To present the clinical profile, diagnostic work-up, and management of children with Disorders of Sexual Development (DSD).Materials and Methods: A retrospective study from a tertiary pediatric endocrine unit of western India.
Rahul Jahagirdar, Vaman Khadilkar, Ruma Deshpande, Nikhil Lohiya   +3 more
doaj   +1 more source

Child with ‘46, XX’ disorder of sex development: clues to diagnose aromatase deficiency

BMJ Case Reports, 2019
A diagnosis of congenital adrenal hyperplasia (CAH) in a ‘46, XX’ newborn with ambiguous genitalia is like a ‘knee jerk reaction’ of the paediatrician because of its higher frequency and life-threatening consequences if remain undiagnosed and hence untreated.
Saurav Shishir, Agrawal, Partha Pratim, Chakraborty, Anirban, Sinha, Animesh, Maiti   +3 more
openaire   +3 more sources