Description

Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL), and thyroid-stimulating hormone (TSH), while the production of adrenocorticotrophic hormone (ACTH), luteinizing hormone (LH), and follicle-stimulating hormone (FSH) are preserved. In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen. Some cases present with severe mental retardation along with short stature.

Genes:

POU1F1

Disorders:

Metabolic Disorders

Clinical Utility:

Confirmation of a clinical diagnosis, Carrier testing in unaffected family members

Methods