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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.
Pathogenesis of Tuberculosis
Published in Lloyd N. Friedman, Martin Dedicoat, Peter D. O. Davies, Clinical Tuberculosis, 2020
Divya B. Reddy, Jerrold J. Ellner
Cox et al. have assessed HLA-DR in a group of Mexican Americans with TB.105 There was no association of a class II MHC locus with disease or TST reactivity. Of interest, however, was a relationship between HLA-DR and in vitro lymphocyte responses to PPD. In fact, the haplotype HLA-B14-DR1 was associated with low blastogenic responses. This is of considerable interest because this haplotype is associated with nonclassical adrenal 21-hydroxylase deficiency106; the gene for this abnormality maps to chromosome 6, within the class II MHC, and is a trait that is associated with altered expression of HLA-DR1 such that there is failure to activate alloreactive or class II-restricted T-cell clones.
Investigation of the role of serum telomerase levels in patients with occult primary ovarian insufficiency: a prospective cross-sectional study
Published in Journal of Obstetrics and Gynaecology, 2022
Duygu Tugrul Ersak, Nafiye Yilmaz, Sabri Cavkaytar, Burak Ersak, Yaprak Ustun
The ovarian stimulation for all occult POI patients was a flexible regimen of gonadotropin-releasing hormone (GnRH)-antagonist protocol. Patients were administered recombinant FSH or human menopausal gonadotropin on cycle day 2 subcutaneously, and later 0.25 mg of cetrorelix daily when the leading follicle reached 14 mm in diameter until the human chorionic gonadotropin (HCG) injection. Final oocyte maturation was triggered with HCG 10,000 IU when the three larger follicles reached a mean diameter of 17 mm. Serum E2 and endometrial thickness were measured on triggering day. Ultrasound-guided transvaginal oocyte retrieval was performed 36 h later. All patients had been previously underwent an infertility evaluation that included serum basal hormone levels (E2, FSH, luteinizing hormone [LH], thyroid-stimulating hormone [TSH]), and prolactin levels on menstrual cycle days 2 or 3, as well as a hysterosalphingogram. Karyotype, Fragile X mental retardation 1 premutation testing and 21-hydroxylase antibodies measurement were also performed as a part of the evaluation for all patients with POI. All patients had normal menstrual cycles with a range of 24–35 d, normal serum TSH and prolactin levels and had no other factors of infertility except for poor ovarian response. In addition, anti-mullerian hormone (AMH) levels, ovarian hyperstimulation protocols and induction parameters, peak E2 levels, IVF cycle results and total motile progressive sperm count (TMPSC) of spouses were recorded.
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].