A case of 17-beta-hydroxysteroid dehydrogenase deficiency type 3 in adult endocrinologist practice

17β-Hydroxysteroid dehydrogenase 3 deficiency (17HSD3) is a rare autosomal recessive cause of 46, XY disorders of sex development resulting from HSD17B3 gene mutations, in which conversion of androstenedione to testosterone is impared. The clinical signs of 17HSD3 deficiency depend on the residual activity of the enzyme. The diagnosis of 17HSD3 deficiency is based on reduced testosterone/androstenedione ratio (T/AD < 0.8). Patients are usually assigned at birth and raise as female. If the diagnosis is made before puberty, gonadectomy is recommended, taking into account the risk of masculinization during the puberty and estrogen therapy initiation in this period. If the diagnosis of 17HSD3 deficiency is established during puberty, when virilization manifests, the therapeutic strategy is based on the results of comprehensive psychological testing and gender identity of a patient. In patients with more pronounced masculinization or diagnosis established shortly after birth, who are assigned at birth and raise as male, testosterone therapy is used to achieve a male phenotype. The 17HSD3 deficiency and virilization often result in a change of gender identity during puberty. The article presents a clinical case of 17-βhydroxysteroid dehydrogenase type 3 deficiency with late diagnosis due to parental will. The diagnostic approaches and management of the disease are also described

Russian clinical practice guidelines «congenital adrenal hyperplasia»

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by a defect in one of the enzymes or transport proteins involved in the cortisol synthesis in the adrenal cortex. The most common form of CAH, which occurs in more than 90% of cases, is a 21-hydroxylase enzyme deficiency. The latter is subdivided into nonclassical and classic (salt-losing and virilizing) forms. The prevalence of classic forms of 21-hydroxylase deficiency ranges from 1: 14,000 to 1:18,000 live births worldwide. According to the data of neonatal screening in the Russian Federation, the prevalence of the disease in some regions ranges from 1: 5000 to 1: 12000, in the country as a whole - 1: 9638 live newborns. The non-classical form of CAH occurs more often - from 1: 500 to 1: 1000 among the general population. In second place is the hypertensive form of CAH - a deficiency of 11β-hydroxylase, which, according to the literature, occurs in about 1 per 100,000 newborns. These clinical guidelines were compiled by a professional community of narrow specialists, approved by the expert council of the Ministry of Health of the Russian Federation, and updated the previous version published in 2016. The clinical guidelines are based on systematic reviews, meta-analyses and original articles, and scientific work on this issue in the Russian Federation and other countries. The purpose of this document is to provide clinicians with the most up-to-date, evidence-based guidelines for the CAH diagnosis and treatmen

EFFECT OF GLUCOCORTICOID THERAPY FOR CONGENITAL ADRENAL HYPERPLASIA IN ADULT PATIENTS ON REDUCTION OF BONE MINERAL DENSITY

Congenital adrenal hyperplasia (CAH) is a disease leading to decreased adrenal cortisol secretion which requires lifelong treatment with glucocorticoids (GC). However the question whether these patients need regular DXA screening for osteoporosis is still widely discussed in literature. The aim of this study was to evaluate bone mineral density (BMD) in adult patients with classical forms of CAH in Russian population. We have shown that 22% of patients had low BMD which had no correlation with compensation and GC doses. There were no significant deviations in biochemical markers of bone turnover levels. The serum Vitamin D deficiency was found in 89% of patients with CAH which needed early correction in patients with low BMD

ENDOCRINE ASPECTS OF AMIODARONE THERAPY IN CLINICAL PRACTICE (FOLLOW-UP AND TREATMENT ALGORITHM FOR PATIENTS WITH THYROID DYSFUNCTION)

This review discusses the effects of amiodarone on thyroid function and summarises the results of international studies and the evidence obtained by the researchers from the A.L. Myasnikov Research Institute of Clinical Cardiology and Endocrinology Research Centre. The guidelines on thyroid dysfunction diagnostics and therapy, as well as the follow-up of amiodarone-treated patients, are presented