Гипофосфатазия -редкое наследственное рахитоподобное заболевание, обусловленное снижением активности тка-ненеспецифической щелочной фосфатазы, кодируемой геном ALPL. Различают несколько форм данного заболевания в зависимости от тяжести течения и возраста манифестации. Основными клиническими признаками гипофосфатазии являются рахитические деформации костей скелета, мышечная гипотония и дыхательная недостаточность в раннем дет-ском возрасте, задержка физического и моторного развития, раннее выпадение зубов. В зрелом возрасте наблюдаются стресс-переломы, мышечные боли, кальцификация связок и суставов. Биохимическими маркерами патологии служат сниженный уровень щелочной фосфатазы, повышенное содержание фосфоэтаноламина в моче; при тяжелых формах заболевания -гиперкальциемия, гиперфосфатемия, снижения уровня паратгормона. Приведено клиническое описание пациентов с гипофосфатазией различной тяжести, у которых впервые в России проведена молекулярно-генетическая верификация диагноза.

According to publications in the foreign literature, the incidence of secondary testicular structures in the patients with congenital adrenal cortical dysfunction (CACD) amounts to 90%. In this country, the scheduled screening for TART tumours in the male patients presenting with CACD is not carried out. At the same time, the late consequences of this pathology (infertility, obstructive testicular diseases) require increasingly more attention starting from the early childhood.

Multiple endocrine neoplasia type 1 (MEN-1) is the most common cause of the hereditary type of primary hyperparathyroidism (PHPT). If a family type of PHPT is suspected, a dynamic monitoring of patients and their close relatives should be carried out throughout their lives. We present a clinical case of a family in which four members of a pedigree were diagnosed with familial isolated hyperparathyroidism (FIHP). The diagnosis was changed to MEN-1, because it appeared that one of the patients had pancreatic neuroendocrine tumor. Molecular genetic study of MEN1 by direct by means of Sanger sequencing revealed that six family members had a new heterozygous mutation in exon 9: s. 1252 G> T p. D418Y.

Deficiency of type II 5-alpha reductase (5-ARII) is known to be responsible for abnormal sexual differentiation in boys. Of primary importance is differential diagnosis between this condition and incomplete form of androgen resistance. In the latter case, adaptation to male gender is highly undesirable because of inefficiency of androgen therapy. In contrast, such adaptation is socially justified in patients with type II 5-alpha reductase deficiency; sometimes, it permits to preserve fertility. The cases reported in this paper demonstrate low diagnostic value of the T/DHT ratio (at least as determined by the immunoenzyme assay) and emphasize the necessity of analysis of the SRD5A2 gene in all patients with suspected deficiency of type II 5-alpha reductase.

Novel information concerning the management of adult patients with congenital adrenal cortical dysfunction is presented. New methods for the treatment of this pathology are described along with evaluation of its outcomes. Late consequences of long-term glucocorticoid therapy of congenital adrenal cortical dysfunction are considered.