Towards a virtual research environment for paediatric endocrinology across Europe [PDF]
, 2009 Paediatric endocrinology is a medical specialty dealing with variations of physical growth and sexual development in childhood. Genetic anomalies that can cause disorders of sexual development in children are rare.
Ahmed, F. +4 more
core +2 more sources
Non-Syndromic 46,XY Disorders of Sex Development
Acta Medica Martiniana, 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 ...
Gecz J, Breza J, Banovcin P
doaj +1 more source
Male Hypogonadism and Disorders of Sex Development
Frontiers in Endocrinology, 2020 Disorders of Sex Development (DSD) are congenital anomalies in which there is a discordance between chromosomal, genetic, gonadal, and/or internal/external genital sex.
Romina P. Grinspon +3 more
doaj +1 more source
Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development [PDF]
, 2017 Objective: Disorders in sex development (DSD) can be treated well medically, but families will encounter many psychosocial challenges. Promoting counselling to facilitate acceptance and coping is important yet equality of access is unknown.
Ahmed, S. Faisal +12 more
core +7 more sources
Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing
Orphanet Journal of Rare Diseases, 2021 Objective To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD). Subjects and methods: Genomic DNA was extracted from a Chinese 46, XY DSD patient.
Bingqing Yu +5 more
doaj +1 more source
Sex-biased gene expression in the developing brain: implications for autism spectrum disorders. [PDF]
, 2013 RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'.
Rennert, Owen M, Ziats, Mark N
core +2 more sources
Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2020 Purpose Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes.
Yena Lee +8 more
doaj +1 more source
A questionnaire-based survey on hyperphagia in individuals with Prader–Willi syndrome in Japan
Endocrine JournalPrader–Willi syndrome (PWS) is associated with increased mortality, primarily due to complications from hyperphagia-associated obesity. Clinical trials investigating anti-hyperphagic medications are currently underway.
Makiko Tachibana +9 more
doaj +1 more source
Droit et Cultures, 2021 This article presents a short history of the Lausanne School or “Swiss model” (as it is sometimes called abroad) created in the context of an interdisciplinary “SHS and gender in medicine” project we launched in 2005 to improve medical care for persons ...
Cynthia Kraus +3 more
doaj
True hermaphrodite presenting as primary amenorrhea
Indian Journal of Endocrinology and Metabolism, 2012 True hermaphrodite is one of the rare variety of disorders of sex development. Most of them are genotypically females (46 XX) and present as under virilized males. Features of hyperandrogenism are present in those reared as females.
Lal Bahadur Palo +3 more
doaj +1 more source