Towards improved genetic diagnosis of human differences of sex development
EC Délot, E Vilain - Nature Reviews Genetics, 2021 - nature.com
Despite being collectively among the most frequent congenital developmental conditions
worldwide, differences of sex development (DSD) lack recognition and research funding. As …
worldwide, differences of sex development (DSD) lack recognition and research funding. As …
[HTML][HTML] Intracrine androgen biosynthesis, metabolism and action revisited
Androgens play an important role in metabolic homeostasis and reproductive health in both
men and women. Androgen signalling is dependent on androgen receptor activation, mostly …
men and women. Androgen signalling is dependent on androgen receptor activation, mostly …
Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome
AB Wisniewski, CJ Migeon… - The Journal of …, 2000 - academic.oup.com
Controversy concerning the most appropriate treatment guidelines for intersex children
currently exists. This is due to a lack of long-term information regarding medical, surgical …
currently exists. This is due to a lack of long-term information regarding medical, surgical …
Steroid metabolome analysis in disorders of adrenal steroid biosynthesis and metabolism
KH Storbeck, L Schiffer, ES Baranowski… - Endocrine …, 2019 - academic.oup.com
Steroid biosynthesis and metabolism are reflected by the serum steroid metabolome and, in
even more detail, by the 24-hour urine steroid metabolome, which can provide unique …
even more detail, by the 24-hour urine steroid metabolome, which can provide unique …
[HTML][HTML] Pharmacophore models and pharmacophore-based virtual screening: concepts and applications exemplified on hydroxysteroid dehydrogenases
Computational methods are well-established tools in the drug discovery process and can be
employed for a variety of tasks. Common applications include lead identification and scaffold …
employed for a variety of tasks. Common applications include lead identification and scaffold …
Molecular regulation of steroidogenesis in endocrine Leydig cells
JJ Tremblay - Steroids, 2015 - Elsevier
Steroid hormones regulate essential physiological processes and inadequate levels are
associated with various pathological conditions. Consequently, the process of steroid …
associated with various pathological conditions. Consequently, the process of steroid …
Genotype Versus Phenotype in Families with Androgen Insensitivity Syndrome
ALM Boehmer, H Brüggenwirth… - The Journal of …, 2001 - academic.oup.com
Androgen insensitivity syndrome encompasses a wide range of phenotypes, which are
caused by numerous different mutations in the AR gene. Detailed information on the …
caused by numerous different mutations in the AR gene. Detailed information on the …
Epidemiology and initial management of ambiguous genitalia at birth in Germany
U Thyen, K Lanz, PM Holterhus, O Hiort - Hormone research in …, 2006 - karger.com
Background: In this epidemiological study, we sought to capture the incidence of ambiguous
genitalia in neonates and to describe initial management strategies. Methods: We used the …
genitalia in neonates and to describe initial management strategies. Methods: We used the …
The biology of human psychosexual differentiation
L Gooren - Hormones and behavior, 2006 - Elsevier
Most attempts to identify biological underpinnings of gender identity and sexual orientation
in humans have investigated effects of sex steroids, so pivotal in the differentiation of the …
in humans have investigated effects of sex steroids, so pivotal in the differentiation of the …
Ambiguous genitalia with perineoscrotal hypospadias in 46, XY individuals: long-term medical, surgical, and psychosexual outcome
CJ Migeon, AB Wisniewski, JP Gearhart… - …, 2002 - publications.aap.org
Objectives. To identify and study adults (21 years or older) who have a 46, XY karyotype and
presented as infants or children with genital ambiguity, including a small phallus and …
presented as infants or children with genital ambiguity, including a small phallus and …