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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 prenatal treatment of congenital adrenal hyperplasia due to 21 hydroxylase deficiency is instituted with the aim of preventing the in utero virilisation of CAH-affected female fetuses, which is caused by overproduction of adrenal androgens.
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
Subsequent localization and characterization of the 21-hydroxylase genes was made possible after the enzyme was isolated in 1980 by Kominami and colleagues.11 The 21-hydroxylase enzyme was established to be a cytochrome P-450 termed P-450c21.5 The human P-450c21 has 494 amino acids. White and colleagues12 purified bovine P-450c21 and generated an antibody to it. They were able to isolate the bovine adrenal mRNA that coded for P-450c21 through an in vitro translation reaction screened with the antibody. Reverse transcription was then used to produce cDNA. Bovine cDNA was used as a probe to isolate human P-450c21 from a fetal adrenal cDNA library.12
Cardiometabolic risk factors in women with non-classic congenital adrenal hyperplasia
Published in Acta Cardiologica, 2020
Robert Krysiak, Karolina Kowalcze, Bogdan Marek, Bogusław Okopień
Some study limitations should be noted. Firstly, because of a small number of patients, the obtained results should be confirmed in a large multi-center study. Secondly, there are controversies concerning cut-off values for 17-hydroxyprogesterone after cosyntropin stimulation. The value used in our study and fact that the test was performed in the early follicular phase were based on the Endocrine Society guidelines [30]. However, there are authors who use stimulated cut-off value of 15 ng/mL, performing this test at any time of day and at any time during the menstrual cycle [3]. Thirdly, the study measured only surrogates, which cannot be easily translated to hard endpoints. Finally, we did not perform a urine steroid profile which can differentiate 21-hydroxylase deficiency from less frequent forms of CAH (11β-hydroxylase deficiency and 17-hydroxylase deficiency).
Clémentine Delait (1865–1934), the most famous bearded lady on the continent in the 20th century
Published in Gynecological Endocrinology, 2020
We can only speculate on the cause of the hirsutism in Clémentine Delait. She developed hirsutism at the age of 18 and died at the age of 69. She also showed subtle other signs of hyperandrogenism like her muscular power and she had a deep voice as well. On the other hand she was morbidly obese (BMI 36 kg/m2). She never became pregnant. She died of a cardiovascular - thromboembolic event. There were no other reported signs or symptoms of Cushing’s syndrome (like: rounded (moon) face, peripheral muscular atrophy, easy bruisability, edema, or psychiatric/psychologic symptoms). These combinations do not fit with the diagnosis of Cushing’s syndrome, nor with malignant disorders accompanied by hyperandrogenism, such as ovarian and adrenal tumors. The most probable diagnosis in this case still remains PCOS [12]. The obesity and cardiovascular problems fit well with this diagnosis. A second possibility is an incomplete block in the adrenal steroid synthesis (CAH), like nonclassical 21-hydroxylase (21OHD) deficiency [13].
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].