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Drugs in pregnancy and lactation
Published in Evelyne Jacqz-Aigrain, Imti Choonara, Paediatric Clinical Pharmacology, 2021
Evelyne Jacqz-Aigrain, Imti Choonara
The congenital adrenal hyperplasia (CAH) is related in most cases (>90%) to a deficit in steroid 21 hydroxylase, leading to overproduction of D4 epiandrosterone and testosterone. 21 hydroxylase deficiency is transmitted as an autosomal recessive trait. The “classic form” causes ambiguous external genitalia in females with or without salt wasting. But there is also a “wild-late, form”, causing symptoms of masculinisation at puberty and infertility [29].
Pituitary and adrenal disease
Published in Catherine Nelson-Piercy, Handbook of Obstetric Medicine, 2020
About 90% are due to 21-hydroxylase deficiency causing both reduced cortisol and aldosterone production and increased androgen synthesis. These individuals have both glucocorticoid and mineralocortcoid deficiency and the ‘salt-losing’ form of CAH.
Genetics of Endocrine Disorders and Diabetes Mellitus
Published in George H. Gass, Harold M. Kaplan, Handbook of Endocrinology, 2020
Bess Adkins Marshall, Abby Solomon Hollander
The most accurate way to establish prenatal diagnosis of 21-hydroxylase deficiency is to do molecular genetic studies on amniotic or chorionic villus samples. Extracted DNA can be evaluated by Southern blot analysis.20,21 Mutations in the 21-hydroxylase gene can be detected using polynucleotide probes designed to detect mutations in CYP21B. Through the use of PCR, amplified DNA can be obtained from very small samples.22 Although the reports of direct molecular genetic testing to establish prenatal diagnosis of 21-hydroxylase deficiency contain small numbers of patients, the results are uniformly accurate.20–22
Androgen profile in young females with insulin resistance; the importance of 17-Hydroxyprogesterone
Published in Gynecological Endocrinology, 2019
Mehdi Basaki, Mehdi Saeb, Saeedeh Saeb
Hyperandrogenemia detected in young females in present study could be attributed to their obesity to some extent since previous studies suggested that endogenous sex hormones may influence insulin sensitivity via their effects on adiposity. Clinical studies show that antiandrogen therapy decreases adiposity in women [17,20] and weight loss in obese PCOS girls decreases the androgens levels [21]. Moreover, the androgen excess appears to cause adipocyte hypertrophy and disturb the adipokine secretion in PCOS women which can contribute to the pathogenesis of IR in obesity [4]. Also, as insulin can enhance the activity of 17α-hydroxylase enzyme, hyperandrogenemia could be imputed to the hyperinsulinemia [4]. Additionally, given that SHBG binds to androgens with a higher affinity for testosterone, lower levels of SHBG lead to an increase in free androgens levels, especially testosterone, and higher risk of IR and T2DM development in women [4,8]. However, the lack of SHBG measurement did not allow us to analyze its metabolic correlations in our study. Furthermore, ACTH measurement and ACTH stimulation test could help to determine the 21-hydroxylase deficiency as a possible underlying mechanism of hyperandrogenemia and increase in 17OHP level [22].
Para-ovarian adrenal rest tumors: gynecologic manifestations of untreated congenital adrenal hyperplasia
Published in Gynecological Endocrinology, 2018
Jessica M. Sisto, Fong W. Liu, Mitchell E. Geffner, Michael L. Berman
Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders of adrenal steroid biosynthesis that may have varying gynecologic manifestations. Mutations in the CYP21A2 gene leading to deficient or absent activity of the 21-hydroxylase enzyme account for 95% of cases of CAH leading to inadequate glucocorticoid and often mineralocorticoid production, with a concomitant increase in androgens and steroid intermediates [1]. In the virilizing subtype of 21-hydroxylase deficiency, affected females present as neonates with ambiguous genitalia [2], clitoral enlargement, and a common urogenital sinus. Diagnosis in the “salt-wasting” subtype of 21-hydroxylase deficiency may also occur after an adrenal crisis with patients presenting with hyponatremia, hyperkalemia, and/or dehydration [2]. In milder forms or undertreated severe forms of 21-hydroxylase deficiency, gynecologists may encounter adolescent and adult female patients who present with manifestations of increased androgens, e.g. hirsutism, clitoromegaly, oligomenorrhea, infertility, decreased breast mass, or, as in our case, a pelvic mass.
From diagnosis to treatment of androgen-secreting ovarian tumors: a practical approach
Published in Gynecological Endocrinology, 2022
Patrycja Rojewska, Blazej Meczekalski, Grzegorz Bala, Stefano Luisi, Agnieszka Podfigurna
In contrast to PCOS, women who have a non-classic 21-hydroxylase deficiency, peripubertal onset of symptoms related to hyperandrogenization is fairly characteristic. While disorders of the menstrual cycle in these patients are similar to those observed in PCOS, they are distinct in that they do not present any apparent form of cortisol deficiency. The 21-hydroxylase deficiency that is observed in these patients will lead to accumulation of 17-hydroxyprogesterone, a substrate for 21-hydroxylase and a precursor to androgen and androstenedione production [41].