| Autor: |
Bolmasova AV; Endocrinology research center; Kulakov Federal Reseаrch Center for Obstetrics, Gynecology and Perinatology., Melikyan MA; Endocrinology research center., Gadzhieva ZS; Endocrinology research center., Puchkova AA; Kulakov Federal Reseаrch Center for Obstetrics, Gynecology and Perinatology., Degtyareva AV; Kulakov Federal Reseаrch Center for Obstetrics, Gynecology and Perinatology; The First Sechenov Moscow State Medical University., Peterkova VA; Endocrinology research center. |
| Jazyk: |
ruština |
| Zdroj: |
Problemy endokrinologii [Probl Endokrinol (Mosk)] 2021 Jul 13; Vol. 67 (4), pp. 57-67. Date of Electronic Publication: 2021 Jul 13. |
| DOI: |
10.14341/probl12761 |
| Abstrakt: |
Congenital hypopituitarism is a rare disease. It can be caused by isolated inborn defects of the pituitary, gene mutations (PROP1, PIT1), and chromosomal abnormalities.Deletions of chromosome 18 (De Grouchy syndrome types 1 and 2) are a group of rare genetic diseases with a frequency of 1:50,000. Hypopituitarism in these syndromes is detected in from 13 to 56% of cases and depends on the size and location of the deleted segment.We have described a series of clinical cases of patients with congenital hypopituitarism due to deletions in chromosome 18. All children had a characteristic dysmorphic features and delayed mental and speech development. Within first months of life, patients developed muscular hypotension, dysphagia, and respiratory disorders. The patients had various congenital malformations in combination with hypopituitarism (isolated growth hormone deficiency and multiple pituitaryhormone deficiencies). In the neonatal period, there were the presence of hypoglycemia in combination with cholestasis.Hormone replacement therapy led to rapid relief of symptoms.Сhromosomal microarray analysis in 2 patients allowed us to identify exact location of deleted area and deleted genes and optimize further management for them. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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