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 …

[HTML][HTML] Intracrine androgen biosynthesis, metabolism and action revisited

L Schiffer, W Arlt, KH Storbeck - Molecular and cellular endocrinology, 2018 - Elsevier
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 …

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 …

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 …

[HTML][HTML] Pharmacophore models and pharmacophore-based virtual screening: concepts and applications exemplified on hydroxysteroid dehydrogenases

T Kaserer, KR Beck, M Akram, A Odermatt, D Schuster - Molecules, 2015 - mdpi.com
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 …

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 …

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 …

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 …

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 …

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 …