HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.

ABSTRACT:

Introduction

Mutations in the transcription factor HESX1 can cause isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD) with or without septo-optic dysplasia (SOD). So far there is no clear genotype-phenotype correlation.

Patients and results

We report four different recessive loss-of-function mutations in three unrelated families with CPHD and no midline defects or SOD. A homozygous p.R160C mutation was found by Sanger sequencing in two siblings from a consanguineous family. These patients presented with ACTH, TSH and GH deficiencies, severe anterior pituitary hypoplasia (APH) or pituitary aplasia (PA) and normal posterior pituitary. The p.R160C mutation was previously reported in a case with SOD, CPHD and ectopic posterior pituitary (EP

SUBMITTER: Fang Q 

PROVIDER: S-EPMC4988903 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature