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

  • OO Ayoola
  • FA Oladejo
  • M Dattani
  • PE Clayton
Keywords: Multiple pituitary hormone deficiency (MPHD), PIT-1 mutation, short stature, management, 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.

Keywords: Multiple pituitary hormone deficiency (MPHD), PIT-1 mutation, short stature, management, developing country.

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eISSN: 1597-1627