To date, various genetic defects impairing the biosynthesis of thyroid hormone have been
identified. These congenital heterogeneous disorders result from mutations of genes …

Mutations in the prophet of PIT1 gene (PROP1) are the most common cause of multiple
pituitary hormone deficiency in humans; however, the mechanism of PROP1 action is not …

HESX1 is a paired-like homeodomain transcription factor that functions as a repressor of
PROP1-mediated gene stimulation. Mutations in HESX1 have been implicated in cases of …

Infertility is typically defined as the absence of pregnancy after 1 year of unprotected
intercourse. The basic infertility evaluation usually includes a hysterosalpingogram, semen …

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 …

Background/Aims: Many genes encoding pituitary transcription factors involved in the
formation of the pituitary gland are identified. Different mutations in these genes have been …

Combined pituitary hormone deficiency (CPHD) is characterized by impaired production of
GH and one or more of the other anterior pituitary hormones. Prophet of Pit-1 (PROP-1), one …

Pituitary gland development is controlled by signals that guide expression of specific
combinations of transcription factors that dictate serial determination and differentiation …

Objective: The PROP-1 gene mutation is a rare disorder leading to combined pituitary
hormone deficiencies over time. The aim was to analyze the clinical picture of 40 years of an …

Spontaneous and genetically engineered mouse mutants have greatly enhanced our
understanding of congenital and acquired endocrine disorders in humans. The dwarf mouse …