Humans with hypogonadotropic hypogonadism (HH) manifest irreversible pubertal delay,
infertility, and low serum levels of follicle‐stimulating hormone (FSH) and luteinizing …

Summary objective Mutations in the gene for the POU domain transcription factor POU1F1
(human Pit‐1) have been reported in patients with GH, TSH and PRL deficiencies. PROP1 …

The PROP paired-like homeobox 1 (PROP1) gene encodes a protein that regulates growth
and development in mammals. Possessing DNA-binding and transcriptional activation …

Context: PROP1 gene mutations cause multiple pituitary hormone deficiency (MPHD).
Objective: We sought to expand experience with PROP1 mutation carriers by studying a …

Combined Pituitary Hormone Deficiency (CPHD) is a prevalent disease in
Neuroendocrinology services. The genetic form of CPHD may originate from mutations in …

Objective Homozygous mutations in the gene encoding the pituitary transcription factor
PROP1 are associated with combined pituitary hormone deficiency (CPHD) in both mice …

An up-to-date review of the genetic aspects of idiopathic hypogonadotropic hypogonadism
(IHH)/Kallmann syndrome (KS) is presented. Because proper development of the …

Abstract Two variants (c.[301_302delAG];[301_302delAG] and c.[150delA];[150delA]) in the
PROP1 gene are the most common genetic causes of recessively inherited combined …

OBJECTIVE. The aim of this study was to clafify the relationship between morphologic
changes of the pituitary gland and the genotype of Prophet of Pit-1 (PROP1), a newly …

The most commonly identified genetic cause of combined pituitary hormone deficiency
(CPHD) is PROP1 gene mutations. The aim of the study was to compare selected clinical …