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. Komisarenko Institute of Endocrinology and Metabolism of the National Academy of Medical Sciences of Ukraine¼ were examined. The patient's gender and age, the anthropometric data, the vitamin D level in the blood, the bone age, the GH level, the IGF-1 levels, the level of calcium in the blood and VDR gene polymorphism were taken into account. RESULTS: Results: It was shown that in the presence of the G/A genotype, the risk of growth hormone deficiency development was increased OR = 1,096 (95% CI 0.39-3.02; p = 0.86). For BsmI, mean values of height, body mass, height SDS, serum 25(OH)D, in the studied population (16 children) were 123.49 ± 19.62 cm, 26.96 ± 11.11 kg, -2.25 ± 0.85, 48.86 ± 16.71 nmol/l, respectively; total calcium level consisted of 2.40 ± 0.12 mmol/l, serum phosphorus - 1.43 ± 0.11 mmol/l. CONCLUSION: Conclusions: The allele frequency of the VDR BsmI polymorphism was 62.5% for the G allele (n = 20) and 37.5% for the allele A (n = 12). The G allele carrier of the polymorphic locus BsmI rs1544410 of the VDR gene (rs11568820) is associated with an increased risk of growth hormone deficiency development OR = 1.31 (95% CI 0.62-2.75; p = 0.47).

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. The proband and the father were found to be heterozygotes for the F508del mutation of the CFTR gene (the father suffers from mucoviscidosis). Congenital dysfunction of the adrenal glands, a viral form, was diagnosed when he was three years old. The child is currently receiving: Creon 100 000 units per day with eating, Colomycin 1 vial per day, Pulmozyme 2.5 mg/2.5 ml daily in the morning for inhalations, Ursofalk 600 mg every day constantly, Hydrocortisone 50 mg/day. CONCLUSION: Conclusions: This clinical case can be attributed to rare, as most such pathological conditions are usually diagnosed in maternity homes along with the prescription of appropriate therapy. This is an example of late diagnosis of the viral form of congenital adrenal dysfunction against the background of cystic fibrosis, indicating the need for earlier detection and timely introduction of substitution therapy to improve favourable prognosis for a disease.

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. Micropoliadenia was also detected. This patient did not have any other symptoms. A genetic study found a mutation in the TNFRSF1A gene (substitution in exon 4 with 3449T> G: p.C117G). This mutation has not been recorded in the international electronic database INFEVERS. The child was administered pathogenetic therapy with a selective blocker of interleukin (IL-1) receptors (anakinra) at a dose of 1-5 mg / kg of body weight subcutaneously daily. After the first injection of anakinra the patient got rid of fever, joint syndrome and of abdominal pain. After 1 week of therapy, laboratory parameters of the disease activity (ESR, CRP) became normal. The child has taken anakinra for two years, there were no exacerbations of the disease or side effects due to the treatment. The variety of clinical manifestations of congenital periodic fever and the presence of previously unknown genetic mutations that lead to the development of auto-inflammatory syndromes, indicate the need for a detailed study of these diseases.

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. RESULTS: Results: The age and individual anatomical variability, complex way of development and formation of synotopic embryotropographic correlations of the upper and lower parathyroid glands in the prenatal period of human ontogenesis create numerous prerequisites for the emergence of variants of their external structure and topography in the fetuses of both different and the same age groups. CONCLUSION: Conclusions: There is a significant anatomical variability of the upper and lower parathyroid glands in 4-10-month-old fetuses, which is manifested by varieties of their shape and topical location. Aplasia of the upper parathyroid glands, which was found in two human fetuses aged 7 months, was due to the fetures of their organogenesis and the formation of syntopy in the embryonic and prefetal periods of their development. Parathyroid glands are mainly supplied with blood by the branches of the inferior thyroid artery. The branches of the upper thyroid artery and the arteries of adjacent organs: larynx, trachea and esophagus are involved in the blood supply. The right and left inferior thyroid veins are tributaries of the corresponding brachiocephalic vein, paired (right and left) superior and middle thyroid veins are those for the internal jugular vein.