Normal hypothalamopituitary development is closely related to that of the forebrain and is
dependent upon a complex genetic cascade of transcription factors and signaling molecules …

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 …

Defects in pituitary gland organogenesis are sometimes associated with congenital
anomalies that affect head development. Lesions in transcription factors and signaling …

Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect. This
syndrome is an antenatal developmental defect belonging to the holoprosencephaly …

The term “congenital hypogonadotropic hypogonadism”(CHH) refers to a group of disorders
featuring complete or partial pubertal failure due to insufficient secretion of the pituitary …

Over the last 5 years, new actors involved in the pathogenesis of combined pituitary
hormone deficiency in humans have been reported: they included a member of the …

Background DAVID syndrome is a rare condition combining anterior pituitary hormone
deficiency with common variable immunodeficiency. NFKB2 mutations have recently been …

Background Pituitary stalk interruption syndrome (PSIS) is a particular entity in the
population of patients with hypopituitarism. Only rare cases have a known genetic cause …

Purpose Congenital hypopituitarism (CH) disorders are phenotypically variable. Variants in
multiple genes are associated with these disorders, with variable penetrance and …

The somatotropic axis is the central postnatal regulator of longitudinal growth. One of its
major components–growth hormone–is produced by the anterior lobe of the pituitary, which …