Disorders or Differences of Sex Development

M Cools, S Hannema - … : Management of Endocrine Disorders in Children …, 2023 - Springer
… Both androgens can bind to the androgen receptor (AR) … Most affected infants have typical
female genitalia or limited … , usually due to 21-hydroxylase deficiency but other forms need to …

Classical Congenital Adrenal Hyperplasia (CAH) in Childhood and Adolescence: Diagnosis and Management for Future Reproductive Life

M Berberoğlu - Fertility and Reproductive Outcomes in Different Forms …, 2021 - Springer
… The incidence of 21-hydroxylase deficiency CAH ranges from 1 in 5000 to … 21-hydroxylase
cases apart from CYP21A2 mutations. The CAG repeat length of the androgen receptor gene

Hirsutism and virilization

A Gambineri, A Balsamo, R Pasquali - Endocrinology and Diabetes: A …, 2022 - Springer
… CCAH due to 21-hydroxylase deficiency is the commonest … of androgen receptor gene
expression by androgens, with … , is able to prevent genital virilization in most affected females. …

[PDF][PDF] Characterization of the pathogenic variants landscape in 21-hydroxylase deficiency

BCCL de Carvalho - 2022 - repositorio-aberto.up.pt
… ambiguity in affected females and signs of androgen excess at … Virilization of external
genitalia in females is due to … the length of the CAG repeats of the androgen receptor, the highly …

[HTML][HTML] Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

M Kocova, V Anastasovska, H Falhammar - Endocrine, 2020 - Springer
… inducing virilization of the external genitalia in females and … structure of the 21-hydroxylase
enzyme influence the phenotype … the CAG repeats of the androgen receptor and other genes

Variants of Sex Development

IV Wagner, O Hiort - Andrology: Male Reproductive Health and Dysfunction, 2023 - Springer
external genitalia can occur in 21 hydroxylase deficiency. … , so that affected individuals have
external female genitalia at … functional receptor, mutations of the androgen receptor gene

Ambiguous genitalia

SF Witchel, PA Lee - Sperling Pediatric Endocrinology, 2021 - Elsevier
… mesodermal tissues and appears to influence mesodermal-… 20-lyase (CYP17A1), and
21-hydroxylase (CYP21A2) in the fetal … testosterone activates mesenchymal androgen receptors to …

[PDF][PDF] Nonvirilized genitalia in 3 female newborns with the salt-wasting congenital adrenal hyperplasia phenotype

L Yauch, A Mayhew, V Gomez-Lobo… - Journal of the …, 2021 - academic.oup.com
androgen receptor CAG and GGN repeat length and the degree of genital virilization in
females with 21-hydroxylase de… with 21-hydroxylase deficiency appears to be influenced by the …

A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes

A Ata, S Özen, H Onay, S Uzun, D Gökşen… - European journal of …, 2021 - Elsevier
… Gender role behavior is usually affected during childhood, … We had three 21 hydroxylase
deficiency and one 11 β … severe virilization. One patient's family refused re-assignment as …

[PDF][PDF] Sex Development

O Hiort, R Werner - researchgate.net
testosterone formed in the adrenal, such as 21- hydroxylase … have a variant in the androgen
receptor gene. Given that AR … adrenal hyperplasia due to 21- hydroxylase deficiency is the …