Multiple pituitary hormone deficiency caused by Pit-I mutation and the challenges of management in a developing country

Abstract

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.