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FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

10 Mar 2015

Abstract excerpt

The genetic aetiology of congenital hypopituitarism (CH) is not entirely elucidated. FGFR1 and PROKR2 loss-of-function mutations are classically involved in hypogonadotrophic hypogonadism (HH), however, due to the clinical and genetic overlap of HH and CH; these genes may also be involved in the pathogenesis of CH. Using a candidate gene approach, we screened 156 Brazilian patients with combined pituitary hormone...

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PMID: 25759380
DOI: 10.1530/ec-15-0015

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