Results 201 to 210 of about 21,834 (238)

Phenotypic Variation and Pubertal Outcomes in Males and Females With 46,XY Partial Gonadal Dysgenesis.

J Clin Endocrinol Metab
Tadokoro-Cuccaro R, Hughes IA, Cools M, van de Vijver K, Bilharinho de Mendonça B, Domenice S, Loch Batista R, Thomazini Dallago R, Costa EF, Lisboa Gomes N, Maciel-Guerra AT, Guerra-Junior G, Gabriel Ribeiro de Andrade J, Lucas-Herald A, Bryce J, Hannema S, Juul A, Globa E, McElreavey K, Baronio F, Rey R, Lopez Dacal J, Darendeliler F, Poyrazoglu S, Kolesińska Z, Niedziela M, Claahsen-van der Grinten HL, van den Akker ELT, Herrmann G, Atapattu N, Jain V, Sharma R, Bettendorf M, Konrad D, Lenherr-Taube N, Holterhus PM, Fica S, Skae M, Russo G, Stancampiano MR, Gazdagh G, Davies JH, Mohamed Z, Seneviratne SN, Güran T, Güven A, Wasniewska M, Mladenov V, Verkauskas G, Markosyan R, Korbonits M, Hiort O, Frielitz-Wagner IV, Ahmed SF, Thankamony A.   +54 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

46,XY disorders of sex development (DSD)

Clinical Endocrinology, 2009
SummaryThe term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical.Mutations in genes present in X, Y or autosomal chromosomes can cause abnormalities of testis determination or disorders of sex differentiation leading to 46,XY DSD.
Berenice Bilharinho, Mendonca, Sorahia, Domenice, Ivo J P, Arnhold, Elaine M F, Costa   +3 more
openaire   +2 more sources

MAMLD1 and 46,XY Disorders of Sex Development

Seminars in Reproductive Medicine, 2012
MAMLD1 (mastermind-like domain containing 1) is a recently discovered causative gene for 46,XY disorders of sex development (DSD), with hypospadias as the salient clinical phenotype. To date, microdeletions involving MAMLD1 have been identified in six patients, and definitive mutations (nonsense and frameshift mutations that are predicted to undergo ...
Tsutomu, Ogata, Shinichirou, Sano, Eiko, Nagata, Fumiko, Kato, Maki, Fukami   +4 more
openaire   +2 more sources

46,XY disorders of sex development: the use of NGS for prevalent variants

Human Genetics, 2022
46,XY disorders of sex development (DSD) present with diverse phenotypes and complicated genetic causes. Precise genetic diagnosis contributes to accurate management, and targeted next-generation sequencing (NGS) and whole-exome sequencing are powerful tools for investigating DSD.
Qi-Gen Xie, Peng Luo, Kai Xia, Zuo-Qing Li, Zhe Xu, Cheng Su, Chun-Hua Deng   +6 more
openaire   +2 more sources

Review and management of 46,XY Disorders of Sex Development

Journal of Pediatric Urology, 2013
Disorders of sex development (DSD) among 46,XY individuals are rare and challenging conditions. Abnormalities of karyotype, gonadal formation, androgen synthesis, and androgen action are responsible for the multiple disorders that result in undervirilization during development. Phenotypic appearance and timing of presentation are quite variable.
Eric Z, Massanyi, Heather N, Dicarlo, Claude J, Migeon, John P, Gearhart   +3 more
openaire   +2 more sources

46,XY disorders of sex development – the undermasculinised male with disorders of androgen action

Best Practice & Research Clinical Endocrinology & Metabolism, 2010
Insensitivity to the action of androgens is a common cause of undermasculinisation in 46,XY individuals. These disorders are a result of the failure of major androgens to act via the intracellular androgen receptor and, thus, the genomic effects of androgen signalling are disrupted. The phenotype of affected individuals can vary considerably, depending
Hiort, Olaf, Werner, Ralf, Groetsch, Helga   +2 more
openaire   +2 more sources

Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life

Endocrine Reviews, 2019
AbstractDifferences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions that result in discordance between an individual’s sex chromosomes, gonads, and/or anatomic sex. Advances in the clinical care of patients and families affected by 46,XY DSD have been achieved since publication of the original Consensus meeting in ...
Amy B Wisniewski, Rafael L Batista, Elaine M F Costa, Courtney Finlayson, Maria Helena Palma Sircili, Francisco Tibor Dénes, Sorahia Domenice, Berenice B Mendonca   +7 more
openaire   +2 more sources

46,XY Disorders of Sex Development (46,XY DSD) due to Androgen Receptor Defects: Androgen Insensitivity Syndrome

2011
Androgen insensitivity syndrome (AIS) is a rare X-linked disorder in which 46,XY subjects have complete (CAIS) or partial (PAIS) impairment of androgen action due to abnormalities of the androgen receptor (AR). We studied 25 Brazilian subjects with AIS confirmed by identification of mutations in the AR and concluded that (1) identification of mutations
Ivo J P, Arnhold, Karla, Melo, Elaine M F, Costa, Debora, Danilovic, Marlene, Inacio, Sorahia, Domenice, Berenice B, Mendonca   +6 more
openaire   +2 more sources

DNA Copy Number Variations in Patients with 46,XY Disorders of Sex Development

Journal of Urology, 2014
Less than 50% of cases of 46,XY disorders of sex development are genetically defined after karyotyping and/or sequencing of known causal genes. Since copy number variations are often missed by karyotyping and sequencing, we assessed patients with unexplained 46,XY disorders of sex development using array comparative genomic hybridization for possible ...
Steven M, Harrison, Candace F, Granberg, Melise, Keays, Martinez, Hill, Gwen M, Grimsby, Linda A, Baker   +5 more
openaire   +2 more sources