Results 161 to 170 of about 3,198 (197)

46,XY DSD

2020
DSD, with 46,XY chromosomal complement, comprise a heterogeneous group of conditions, where either the hormones associated with virilisation (androgens) are not produced, or the target organs are unable to respond in a typical manner. Important causes to consider in these individuals are gonadal dysgenesis, variations in androgen synthesis and androgen
Michele A. O’Connell, Aurore Bouty, Sonia R. Grover   +2 more
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46,XY DSD

2011
46,XY DSD comprise a very heterogeneous group of conditions where the male hormones are not produced in sufficient quantities or the target organs are unable to respond. The most commonly diagnosed conditions are androgen insensitivity syndrome (AIS) – partial or complete, and defects in androgen synthesis.
Jacqueline K. Hewitt, Garry L. Warne
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Genetic Mechanisms Underlying 46,XY DSD with Gonadal Dysgenesis

2011
Genetic changes in key sex-determining genes lead to 46,XY disorders of sex development (DSD) in humans. Loss-of-function mutation in the sex-determining region on Y (SRY), steroidogenic factor 1 (SF1), and SRY-Box gene 9 (SOX9) genes causes varying phenotypic changes ranging from complete syndromic gonadal dysgenesis to isolated hypospadias. Similarly,
Louisa, Ludbrook, Vincent R, Harley
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Diagnostic approach in 46, XY DSD: an endocrine society of bengal (ESB) consensus statement

Journal of Pediatric Endocrinology and Metabolism, 2022
Abstract Objectives 46, XY difference/disorder of sex development (DSD) is a relatively uncommon group of heterogeneous disorders with varying degree of underandrogenization of male genitalia. Such patients should be approached systematically to reach an aetiological diagnosis.
Arjun Baidya, Asish Kumar Basu, Rana Bhattacharjee, Dibakar Biswas, Kaushik Biswas, Partha Pratim Chakraborty, Purushottam Chatterjee, Subhankar Chowdhury, Ranen Dasgupta, Amritava Ghosh, Sujoy Ghosh, Debasis Giri, Soumik Goswami, Indira Maisnam, Animesh Maiti, Sunetra Mondal, Pradip Mukhopadhyay, Sarmishtha Mukhopadhyay, Satinath Mukhopadhyay, Salil Kumar Pal, Kaushik Pandit, Sayantan Ray, Bibek Roy Chowdhury, Moutusi Raychaudhuri, Pradip Raychaudhuri, Ajitesh Roy, Pranab Kumar Sahana, Debmalya Sanyal, Trinanjan Sanyal, Ravi Kant Saraogi, Dasarathi Sarkar, Nilanjan Sengupta, Awadhesh Kumar Singh, Anirban Sinha   +33 more
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Studies of a Cohort of 46,XY with DSD Including Steroid Biosynthesis Deficiencies

2011
Mutations of genes involved in sex development have been largely reported in the literature, but few data are available to evaluate the proportion of each gene defect in 46,XY DSD patients. We report molecular studies of a cohort of 644 families.
Yves, Morel, Ingrid, Plotton, Delphine, Mallet, Marc, Nicolino, Anne-Marie, Bertrand, Michel, David, Claire, Nihoul-Fekete, Pierre, Chatelain   +7 more
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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
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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
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Mutational analysis of the androgen receptor (NR3C4) gene in patients with 46,XY DSD

Gene, 2018
Androgen insensitivity syndrome (AIS) is an X-linked disorder caused by mutations in the NR3C4 gene, which encodes the androgen receptor (AR). In this study, we performed mutational analyses to identify AR molecular defects, in individuals with 46,XY disorders of sex development (46,XY DSD) and a presumptive diagnosis of AIS.
L. Ramos, B. Chávez, L. Mares, E. Valdés, F. Vilchis   +4 more
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Description of diagnosis of 45,X/46,XY ovotesticular DSD.

Ceska gynekologie, 2021
Description of diagnosis of 45,X/46,XY ovotesticular DSD.Case report.Department of Medical Genetics, KZ a.s., Masaryk Hospital, Ústí nad Labem.45,X/46,XY ovotesticular DSD is a diagnosis, which in this case was detected by chromosomal examination was performed, in which the child showed karyotype 45,X[2]/46,XY[8] - a pathological male karyotype ...
Š, Ren, V, Harmaš, M, Stará, , Laštůvkováj, V, Čejnová   +4 more
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Coproporphyrinogen Oxidase Deficiency Causes Primary Adrenal Insufficiency and 46,XY DSD

The Journal of Clinical Endocrinology & Metabolism
Abstract Context Primary adrenal insufficiency (PAI) is a rare, life-threatening condition, and at times is associated with differences of sexual differentiation (DSD). Cytochrome P450 enzymes, which are essential for steroidogenesis in adrenals and gonads, have heme in their active center ...
Misa Honda, Satoshi Narumi, Kosei Hasegawa, Yoshimitsu Goto, Yusuke Kawashima, Osamu Ohara, Ryuji Fukuzawa, Tomohiro Ishii, Tomonobu Hasegawa   +8 more
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