The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …

Congenital hypogonadotropic hypogonadism (CHH) is a clinically and genetically
heterogeneous congenital disease. Symptoms cover a wide spectrum from mild forms to …

Context The pituitary gland is key for childhood growth, puberty, and metabolism. Pituitary
dysfunction is associated with a spectrum of phenotypes, from mild to severe. Congenital …

Objective Combined pituitary hormonal deficiency (CPHD) can result from mutations within
genes that encode transcription factors. This study evaluated the frequency of mutations in …

Research over the last 20 years has led to the elucidation of the genetic aetiologies of
Isolated Growth Hormone Deficiency (IGHD) and Combined Pituitary Hormone Deficiency …

Over the last two decades, the understanding of the mechanisms involved in pituitary
ontogenesis has largely increased. Since the first description of POU1F1 human mutations …

Pituitary development depends on a complex cascade of interacting transcription factors and
signaling molecules. Lesions in this cascade lead to isolated or combined pituitary hormone …

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

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 …

Abstract Background Congenital Hypopituitarism is caused by genetic and environmental
factors. Over 30 genes have been implicated in isolated and/or combined pituitary hormone …