Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene

P Concolino, A Costella - Molecular diagnosis & therapy, 2018 - Springer
Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders
caused by complete or partial defects in one of the several steroidogenic enzymes involved …

[HTML][HTML] 46, XX DSD due to androgen excess in monogenic disorders of steroidogenesis: genetic, biochemical, and clinical features

F Baronio, R Ortolano, S Menabò, A Cassio… - International journal of …, 2019 - mdpi.com
The term 'differences of sex development'(DSD) refers to a group of congenital conditions
that are associated with atypical development of chromosomal, gonadal, or anatomical sex …

THERAPY OF ENDOCRINE DISEASE: Treatment of hirsutism in the polycystic ovary syndrome

R Pasquali, A Gambineri - European journal of endocrinology, 2014 - academic.oup.com
Hirsutism is a common medical complaint among women of reproductive age, and it affects
the majority of women with the polycystic ovary syndrome (PCOS). Increased rate of …

21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype–phenotype correlation and identification of nine novel …

R Wang, Y Yu, J Ye, L Han, W Qiu, H Zhang, L Liang… - Steroids, 2016 - Elsevier
Abstract Steroid 21-hydroxylase deficiency (21-OHD) caused by the CYP21A2 gene
mutations accounts for more than 90% of congenital adrenal hyperplasia (CAH) cases. In …

Growth trajectory and adult height in children with nonclassical congenital adrenal hyperplasia

MG Wasniewska, LA Morabito, F Baronio… - Hormone research in …, 2020 - karger.com
Background: Children with nonclassical congenital adrenal hyperplasia (NCCAH) often
present increased growth velocity secondary to elevation of adrenal androgens that …

Disorders of sexual development in the domestic horse, Equus caballus

TL Lear, RB McGee - Sexual Development, 2012 - karger.com
Abnormalities of sexual development causing infertility in horses have been investigated
since the early 1970's. Conventional cytogenetic analysis by karyotyping has been the …

Congenital adrenal hyperplasia—pharmacologic interventions from the prenatal phase to adulthood

HL Claahsen-Van Der Grinten, N Stikkelbroeck… - Pharmacology & …, 2011 - Elsevier
Congenital adrenal hyperplasia (CAH) is one of the most common inherited autosomal
recessive disorders, caused by deficiency of one of the enzymes involved in steroid …

[HTML][HTML] Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

TM Espinosa Reyes, T Collazo Mesa… - BMC Endocrine …, 2020 - Springer
Background Congenital adrenal hyperplasia (CAH) is an autosomal recessive group of
diseases. 21-Hydroxylase deficiency (21OHD) accounts for between 95 and 99% of all CAH …

Substitution therapy in adult patients with congenital adrenal hyperplasia

N Reisch - Best Practice & Research Clinical Endocrinology & …, 2015 - Elsevier
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive inherited disorders
caused by defective steroidogenesis. Steroid 21-hydroxylase deficiency (21OHD) is its most …

[HTML][HTML] Good overall behavioural adjustment in children and adolescents with classic congenital adrenal hyperplasia

V Messina, T Hirvikoski, L Karlsson, S Vissani… - Endocrine, 2020 - Springer
Purpose Patients with classic congenital adrenal hyperplasia (CAH) are treated postnatally
with life-long glucocorticoid (GC) replacement therapy. Although prolonged exposure to GCs …