CHOLESTASIS, HYPOGLYCEMIA AND UNUSUAL PHENOTYPE AS THE MANIFESTATIONS OF CONGENITAL HYPOPITUITARISM AS PART OF MONOSOMY 18P- SYNDROME
https://doi.org/10.21518/2079-701X-2018-2-233-237
Abstract
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.
About the Authors
A. V. Degtyareva
Kulakov Scientific Center for Obstetrics, Gynaecology and Perinatology of the Ministry of Health; Sechenov First Moscow State Medical University of the Ministry of Health of Russia
Russian Federation
Russian Federation
Md.
MoscowA. A. Puchkova
Kulakov Scientific Center for Obstetrics, Gynaecology and Perinatology of the Ministry of Health
Russian Federation
Russian Federation
PhD in medicine.
MoscowA. V. Bolmasova
Kulakov Scientific Center for Obstetrics, Gynaecology and Perinatology of the Ministry of Health
Russian Federation
Russian Federation
PhD in medicine.
MoscowM. A. Melikyan
Endocrinology Research Center of the Ministry of Health of Russia
Russian Federation
Russian Federation
PhD in medicine.
MoscowReferences
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Review
For citations:
Degtyareva AV, Puchkova AA, Bolmasova AV, Melikyan MA. CHOLESTASIS, HYPOGLYCEMIA AND UNUSUAL PHENOTYPE AS THE MANIFESTATIONS OF CONGENITAL HYPOPITUITARISM AS PART OF MONOSOMY 18P- SYNDROME. Meditsinskiy sovet = Medical Council. 2018;(2):233-237. (In Russ.) https://doi.org/10.21518/2079-701X-2018-2-233-237
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