ESPE Abstracts

Background: 18p- syndrome is very rare (1:50000 live-born infants). Hypopituitarism as part of the syndrome is found in 13% of cases. Here we present a case of congenital hypopituitarism in a girl with 18p- syndrome.

Objective and hypotheses: Description of a rare clinical case of congenital hypopituitarism as a feature of 18p- syndrome.

Method: Hormonal and biochemical blood tests, MRI, karyotyping, echocardiogram, specialists’ examination.

Results: A girl to non-consanguineous healthy parents was born at term with normal height and weight. From the first week of life the child had marked muscular hypotonia, dysphagia, recurrent hypoglycaemia and signs of cholestasis (hepatomegaly, acholic stool, increase in total and direct bilirubin, GGT, cholesterol and AST, ALT). Later, she was diagnosed with congenital cataracts and a heart disease (atrial septal defect). The child was held karyotyping, which detected the 18p- syndrome ((46 XX, del (18)(p 11.1; p 11.32)). At the age of 3 months she was diagnosed hypopituitarism: secondary hypothyroidism, secondary adrenal insufficiency (ACTH −6.05 pg/ml, cortisol −11.1 nmol/l, TSH – 1.6 mIU/l, fT4 – 7.37 pmol/l). Empty sella syndrome was diagnosed on MRI. Therapy with levothyroxine (6.25 mkg/kg/day) and hydrocortisone (10 mg/m²) has been started. Over the next month cholestasis and hypoglycaemia were occupied. At 2 years, the girl was diagnosed with growth hormone deficiency. Growth hormone therapy has been started, with good effect. A girl has a strong psychomotor retardation.

Conclusion: Diagnosis of congenital hypopituitarism is extremely difficult in the neonatal period. We present a case of congenital hypopituitarism which has manifested after birth with signs of severe cholestasis, hypoglycemia. In addition, the girl was found to have congenital cataracts and a heart disease. In our cases the patient had typical features of the 18p- syndrome in places without centromeric region. Further research and monitoring of patients are needed to determine the prognosis of the disease.