Familial Combined Pituitary Hormone Deficiency by a Mutation in PROP1 – a Case Report

Abstract

Objective This paper aimed to emphasize the importance of considering the diagnosis of PROP1 mutation in all cases where multiple members of the same family are affected by combined pituitary hormone deficiencies (CPHD).

Case Report − We describe two brothers of unrelated parents with a mutation in the PROP1 gene. Both brothers presented with growth impairment - the older one at the age of 2.5 years, and the younger one at the age of 3.3 years. Central hypothyroidism and GH deficiency were established in both of them. Replacement therapy was started using levothyroxine and recombinant growth hormone. Pituitary magnetic resonance imaging was normal. Genetic analysis identified a pathogenic homozygous frameshift variant c.301_302delAG in the PROP1 gene.

Conclusion − Patients with PROP1 mutation must be closely followed up to reveal other possible hormonal defects and to avoid possible life-threatening adrenal crisis in the future. PROP1 mutation should be considered in all familial forms of CPHD and in all patients who have a deficiency of two or more pituitary hormones.