Mutations in PROP1 account for up to half of the cases of combined pituitary hormone
deficiency that result from known causes. Despite this, few signaling molecules and …

The pituitary gland represents the endocrine core of the body, and its hormonal output
governs many key physiological processes. Because endocrine demands frequently …

Context: LHX3 encodes LIM homeodomain class transcription factors with important roles in
pituitary and nervous system development. The only previous report of LHX3 mutations …

Dosage-sensitive sex reversal, adrenal hypoplasia congenita (AHC) critical region on the X
chromosome, gene 1 (Dax1) is an orphan nuclear receptor essential for development and …

Mutations in the transcription factors PIT1 (pituitary transcription factor 1) and PROP1
(prophet of Pit1) lead to pituitary hormone deficiency and hypopituitarism in mice and …

The pituitary gland functions as a relay between the hypothalamus and peripheral target
organs that regulate basic physiological functions, including growth, the stress response …

OTX2 is a homeodomain transcription factor that is necessary for normal head development
in mouse and man. Heterozygosity for loss-of-function alleles causes an incompletely …

The genetic disorders contributing to either delayed or precocious puberty demonstrate the
highly complex role of genetics in the regulation of puberty. There are numerous genetic …

Context: LHX4 is a LIM homeodomain transcription factor involved in pituitary ontogenesis.
Only a few heterozygous LHX4 mutations have been reported to be responsible for …

Context: Pituitary stalk interruption syndrome (PSIS) is characterized by a thin or absent
pituitary stalk usually in association with an ectopic posterior pituitary and …