CHOLESTASIS, HYPOGLYCEMIA AND UNUSUAL PHENOTYPE AS THE MANIFESTATIONS OF CONGENITAL HYPOPITUITARISM AS PART OF MONOSOMY 18P- SYNDROME

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.

Keywords

• monosomy 18p-syndrome
• congenital hypopituitarism
• de grouchy syndrome
• neonatal cholestasis
• hypoglycaemia