Endocrine Abstracts (2002) 3 P169

Familial combined pituitary hormone deficiency by PROP1 gene mutation, in a Portuguese family

C Bacelar1, M Monteiro1, G Vargas1, MC Lemos2,3, F Regateiro3, M Carvalheiro2 & H Ramos1

1Department of Endocrinology, Hospital Geral Santo Antonio, Porto, Portugal; 2Dept Endocrinology, Hospitais da Universidade de Coimbra, Coimbra, Portugal; 3Dept Genética Médica, Faculdade de Medicina da Universidade de Coimbra, Coimbra, Portugal.

Familial combined pituitary hormone deficiency can be due to a PROP 1 gene mutation. PROP1 is essential to pituitary morphogenesis. Mutations with inactivation of this gene results in deficiency of GH, PRL, TSH, LH, FSH and in some cases, ACTH.

The authors describe an affected family, two sibs, with panhyopituitarism: a 10 years old female, and a 15 years old male, who presented with growth and pubertary development delay. Both children lacked GH, TSH, PRL, FSH and LH. The female child developed later, adrenal deficiency due to ACTH insufficiency.

The MRI imaging showed hipoplasic pituitary in the male and expansive sellar lesion without chiasmatic compromise or local invasion, in the female. This lesion have maintained stable along the years.

The molecular study was carried out with amplification by PCR and direct sequenciation of the PROP1 gene .The genetic analyses revealed a two pair base delection on the exon 2 of the PROP1 gene ( A301G302del) and homozygous inactivating mutation was identified in affected children.

Conclusion: The PROP1 gene mutation is, until today, the most frequent mutation among the Portuguese affected individuals. The phenotype is variable; even in relatives carriers of the same mutation, as is the case that we described, in that, only one member presents adrenal insufficiency. Hipoplasic pituitary is usual, but empty sella or expansive lesions, with no tendency for growth have been described.

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