Growth hormone (GH) research and its clinical application for the treatment of growth
disorders span more than a century. During the first half of the 20th century, clinical …

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 …

Although Slavic populations account for over 4.5% of world inhabitants, no centralised, open-
source reference database of genetic variation of any Slavic population exists to date. Such …

Background Congenital hypopituitarism (CH) and its associated syndromes, septo-optic
dysplasia (SOD) and holoprosencephaly (HPE), are midline defects that cause significant …

Context Congenital hypopituitarism (CH) is characterized by the presence of deficiencies in
one or more of the 6 anterior pituitary (AP) hormones secreted from the 5 different …

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 …

Timely recognition of severe, congenital hypopituitarism is challenging. Short stature does
not force consideration of the diagnosis, because birth weight and length are typically …

The first description of patients with combined pituitary hormone deficiencies (CPHD)
caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and …

Purpose Congenital hypopituitarism (CH) can present in isolation or with other birth defects.
Mutations in multiple genes can cause CH, and the use of a genetic screening panel could …

Background Pituitary development and GH secretion are orchestrated by multiple genes
including GH1, GHRHR, GLI2, HESX1, LHX3, LHX4, PROP1, POU1F1, and SOX3. We …