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
Psychiatric characterization of children with genetic causes of hyperandrogenism [PDF]
, 2010 Objective: Very little is known about the mental health status in children with genetic causes of hyperandrogenism. This study sought to characterize psychiatric morbidity in this group. Design/methods: Children (8-18 years) with the diagnosis of classic
Ernst, Monique +7 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
A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male
Clinical Case Reports, 2020 Deficiency of the 5‐alpha‐reductase may have an important role in 46,XY DSD in some cohorts. The prenatal ultrasonography and karyotyping can trigger the attention toward the presence of a DSD in fetus.
Setilla Dalili +4 more
doaj +1 more source
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
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
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
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
Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1 [PDF]
, 2015 Disorders of sex development (DSDs) encompass a broad spectrum of conditions affecting the development of the gonads and genitalia. The underlying causes for DSDs include gain or loss of function variants in genes responsible for gonad development or ...
Bahlo, M. (Melanie) +9 more
core +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