ANALYSIS OF THE VITAMIN D RECEPTOR BSMI GENE POLYMORPHISM IN CHILDREN WITH GROWTH HORMONE DEFICIENCY.

Objective: The aim: The objective of the study was to investigate the polymorphism of the vitamin D receptor (VDR) BsmI gene in children with growth hormone deficiency and the level of their vitamin D supply.

Patients And Methods: Materials and methods: Sixteen children diagnosed with of growth hormone deficiency who were treated at the State Institution «V.P.

COMPLEX ORPHAN PATHOLOGY: COMORBIDITY OF MUCOVISCIDOSIS AND CONGENITAL DYSFUNCTION OF ADRENAL GLANDS CORTEX (REFERENCES REVIEW AND OWN RESEARCH).

Objective: The aim: The clinical case was studied: comorbidity of mucoviscidosis and congenital dysfunction of adrenal glands cortex.

Patients And Methods: Materials and methods: The clinical case of combined orphan pathology - cystic fibrosis and congenital dysfunction of adrenal glands cortex (adrenogenital syndrome) has been described.

Results: Clinical case: A 2-month child has been diagnosed with mucoviscidosis, of a mixed form, which was genetically confirmed.

Periodic syndrome associated with the mutation of the receptor gene of the tumor necrosis factor (clinical case).

The paper deals with a case of TRAPS in a Ukrainian family. The manifestations of this syndrome appeared at the age of 2,5 years and gradually the attacks of fever became morefrequent and the recurrence was typical of this diagnosis. Classically, besides fever, there was an intense abdominal pain, such as an "acute abdomen", arthralgia in the right hip and headache.

Fetal anatomy of parathyroid glands.

Objective: The aim: To study the forms of anatomical variability of the external structure of the upper and lower parathyroid glands in the fetal period of human ontogenesis.

Patients And Methods: Materials and methods: The study involved 48 specimens of human fetuses with 81,0-375,0 mm of crown-rump length (CRL). The study was conducted by means of macromicroscopic preparation, morphometry and variation statistics method.