MULTIPLE PITUITARY HORMONE DEFICIENCY CAUSED BY PIT-I MUTATION AND THE CHALLENGES OF MANAGEMENT IN A DEVELOPING COUNTRY

BACKGROUND: In most developing countries, childhood endocrine disorders are not as common as infections but they do occur. Multiple pituitary hormone deficiency (MPHD) is a known cause of familial short stature. This is very rarely diagnosed in Nigerian children. We describe the challenges of diagnosis and management of childhood endocrine conditions in a developing economy using a ten year old Nigerian girl with MPHD as an illustration. METHODS: Patient had auxological data suggestive of short stature. In order to make a definitive diagnosis, pituitary function tests were carried out in the United Kingdom. RESULTS: Biochemical tests revealed growth hormone (GH) deficiency, Thyroid Stimulating Hormone (TSH) deficiency, decreased prolactin (PRL) level, normal cortisol and gonadotrophins. Her DNA analysis identified PIT-1 mutation in exon-6. She was placed on recombinant GH and thyroxine with evidence of catch up in height. CONCLUSIONS: There were challenges to management such as, inadequate facility for diagnosis, huge cost of treatment and little awareness about childhood endocrine conditions amongst health workers in a developing economy.