Familial combined pituitary hormone deficiency by a mutation in PROP1: 4 of 7 brothers affected

• Tipo: Artigo em Revista Científica Internacional
• Data: 2016

Autores

Lau, E (Autor) Outra; Freitas, P (Autor) FMUP; Coutinho, E (Autor) Outra; Lemos, MC (Autor) Outra; Carvalho, Davide (Autor) FMUP

Revista

Título: Revista Portuguesa de Endocrinologia, Diabetes e Metabolismo

Vol. 11

Páginas: 41-44

ISSN: 1646-3439

Indexação

ISI Web of Knowledge - 0 Citações

Outras Informações

ID Authenticus: P-00K-W5Q

DOI: 10.1016/j.rpedm.2015.05.001

Abstract (EN): Introduction: PROP1 (Prophet of POUF1) mutations are the most frequent genetic cause of combined pituitary hormone deficiency, 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 7 siblings, 4 with combined pituitary hormone deficiency. Two brothers, 41 and 45 years of age, had an initial diagnosis of dwarfism at ages 9 and 12 respectively. Subsequently, TSH, FSH/LH and prolactin deficiency was detected in both. The latter was also diagnosed with cortisol deficiency. The two sisters, aged 46 and 50-years-old, were diagnosed with combined pituitary hormone deficiency, namely of GH, TSH, FSH/LH, prolactin and ACTH, since the ages of 15 and 9, respectively. There was no previous family history of combined pituitary hormone deficiency. The genetic study was performed in the 4 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 ACTH, in patients with PROP1 gene mutations. (C) 2015 Sociedade Portuguesa de Endocrinologia, Diabetes e Metabolismo. Published by Elsevier Espaiia, S.L.U. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 4