CHOLESTASIS, HYPOGLYCEMIA AND UNUSUAL PHENOTYPE AS THE MANIFESTATIONS OF CONGENITAL HYPOPITUITARISM AS PART OF MONOSOMY 18P- SYNDROME
The monosomy 18p-syndrome refers to an extremely rare disorder (1:50,000 live-born infants). Congenital hypopituitarism is one of the manifestations of this syndrome in 13% of cases. The rarity of this pathology causes difficulties in the early detection of congenital hypopituitarism due to lack of...
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| Format: | Article |
| Language: | Russian |
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Remedium Group LLC
2018-02-01
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| Series: | Медицинский совет |
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| Online Access: | https://www.med-sovet.pro/jour/article/view/2319 |
| _version_ | 1797841674484842496 |
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| author | A. V. Degtyareva A. A. Puchkova A. V. Bolmasova M. A. Melikyan |
| author_facet | A. V. Degtyareva A. A. Puchkova A. V. Bolmasova M. A. Melikyan |
| author_sort | A. V. Degtyareva |
| collection | DOAJ |
| description | The monosomy 18p-syndrome refers to an extremely rare disorder (1:50,000 live-born infants). Congenital hypopituitarism is one of the manifestations of this syndrome in 13% of cases. The rarity of this pathology causes difficulties in the early detection of congenital hypopituitarism due to lack of awareness among paediatricians and neonatologists. The article presents a clinical case of congenital hypopituitarism in a girl with monosomy 18p-syndrome, which manifested itself after birth in the form of cholestasis and hypoglycaemia. |
| first_indexed | 2024-04-09T16:35:08Z |
| format | Article |
| id | doaj.art-155e4ea0eeb84d5fb7747587e016d6ef |
| institution | Directory Open Access Journal |
| issn | 2079-701X 2658-5790 |
| language | Russian |
| last_indexed | 2024-04-09T16:35:08Z |
| publishDate | 2018-02-01 |
| publisher | Remedium Group LLC |
| record_format | Article |
| series | Медицинский совет |
| spelling | doaj.art-155e4ea0eeb84d5fb7747587e016d6ef2023-04-23T06:56:55ZrusRemedium Group LLCМедицинский совет2079-701X2658-57902018-02-010223323710.21518/2079-701X-2018-2-233-2372295CHOLESTASIS, HYPOGLYCEMIA AND UNUSUAL PHENOTYPE AS THE MANIFESTATIONS OF CONGENITAL HYPOPITUITARISM AS PART OF MONOSOMY 18P- SYNDROMEA. V. Degtyareva0A. A. Puchkova1A. V. Bolmasova2M. A. Melikyan3Kulakov Scientific Center for Obstetrics, Gynaecology and Perinatology of the Ministry of Health; Sechenov First Moscow State Medical University of the Ministry of Health of RussiaKulakov Scientific Center for Obstetrics, Gynaecology and Perinatology of the Ministry of HealthKulakov Scientific Center for Obstetrics, Gynaecology and Perinatology of the Ministry of HealthEndocrinology Research Center of the Ministry of Health of RussiaThe monosomy 18p-syndrome refers to an extremely rare disorder (1:50,000 live-born infants). Congenital hypopituitarism is one of the manifestations of this syndrome in 13% of cases. The rarity of this pathology causes difficulties in the early detection of congenital hypopituitarism due to lack of awareness among paediatricians and neonatologists. The article presents a clinical case of congenital hypopituitarism in a girl with monosomy 18p-syndrome, which manifested itself after birth in the form of cholestasis and hypoglycaemia.https://www.med-sovet.pro/jour/article/view/2319monosomy 18p-syndromecongenital hypopituitarismde grouchy syndromeneonatal cholestasishypoglycaemia |
| spellingShingle | A. V. Degtyareva A. A. Puchkova A. V. Bolmasova M. A. Melikyan CHOLESTASIS, HYPOGLYCEMIA AND UNUSUAL PHENOTYPE AS THE MANIFESTATIONS OF CONGENITAL HYPOPITUITARISM AS PART OF MONOSOMY 18P- SYNDROME Медицинский совет monosomy 18p-syndrome congenital hypopituitarism de grouchy syndrome neonatal cholestasis hypoglycaemia |
| title | CHOLESTASIS, HYPOGLYCEMIA AND UNUSUAL PHENOTYPE AS THE MANIFESTATIONS OF CONGENITAL HYPOPITUITARISM AS PART OF MONOSOMY 18P- SYNDROME |
| title_full | CHOLESTASIS, HYPOGLYCEMIA AND UNUSUAL PHENOTYPE AS THE MANIFESTATIONS OF CONGENITAL HYPOPITUITARISM AS PART OF MONOSOMY 18P- SYNDROME |
| title_fullStr | CHOLESTASIS, HYPOGLYCEMIA AND UNUSUAL PHENOTYPE AS THE MANIFESTATIONS OF CONGENITAL HYPOPITUITARISM AS PART OF MONOSOMY 18P- SYNDROME |
| title_full_unstemmed | CHOLESTASIS, HYPOGLYCEMIA AND UNUSUAL PHENOTYPE AS THE MANIFESTATIONS OF CONGENITAL HYPOPITUITARISM AS PART OF MONOSOMY 18P- SYNDROME |
| title_short | CHOLESTASIS, HYPOGLYCEMIA AND UNUSUAL PHENOTYPE AS THE MANIFESTATIONS OF CONGENITAL HYPOPITUITARISM AS PART OF MONOSOMY 18P- SYNDROME |
| title_sort | cholestasis hypoglycemia and unusual phenotype as the manifestations of congenital hypopituitarism as part of monosomy 18p syndrome |
| topic | monosomy 18p-syndrome congenital hypopituitarism de grouchy syndrome neonatal cholestasis hypoglycaemia |
| url | https://www.med-sovet.pro/jour/article/view/2319 |
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