Endocrine Abstracts

Introduction: PROP1 (Prophet of Pit-1) mutations are the most frequent genetic cause of panhypopituitarism, a condition associated with a deficiency or inadequate production of hormones of the anterior pituitary. The PROP1 gene encodes a transcription factor involved in the ontogeny, differentiation and function of somatotrophs, lactotrophs and thyrotrophs. These mutations are characterized by a remarkable clinical variability, including time of onset of hormonal deficiencies, hypophyseal dimensions and secretion of cortisol.

Case report: We describe a family of consanguineous parents (second-degree cousins), composed of eight siblings, four with panhypopituitarism, followed in department of Endocrinology, three healthy, and one stillbirth. Two brothers, 41 and 45 years of age, had an initial diagnosis of dwarfism at 9 and 12 years old respectively. Subsequently, it was detected TSH, FSH/LH and prolactin deficiency, in both. In the latter it was also diagnosed cortisol deficiency. The two sisters, aged 46 and 50 years old, had the diagnosis of panhypopituitarism with deficiency of GH, TSH, FSH/LH, prolactin and cortisol, since 15 and 9 years old respectively. There was no previous family history of panhypopituitarism. The genetic study was performed in the four brothers, detecting a homozygous mutation in the PROP1 gene (c.301-302delAG).

Conclusion: This case reflects the variability of clinical expression and the progressive functional impairment, including pituitary secretion of cortisol, in patients with PROP1 gene mutations.