Combined pituitary hormone deficiency

الوصف

Combined pituitary hormone deficiency is a condition that causes a partial or complete loss (deficiency) of two or more hormones that are normally produced by the pituitary gland. The pituitary gland, which is located at the base of the brain, produces hormones that are needed for growth, development, and other critical body functions. A lack of pituitary hormones can affect growth and development.

The signs and symptoms of combined pituitary hormone deficiency depend on the specific hormones involved. The hormones that are produced by the pituitary gland include growth hormone (GH), which is needed for normal growth; follicle-stimulating hormone (FSH) and luteinizing hormone (LH), which play a role in sexual development and the ability to have biological children (fertility); thyroid-stimulating hormone (TSH), which triggers the release of hormones that control how the body uses energy; prolactin, which stimulates the production of breast milk; and adrenocorticotropic hormone (ACTH), which influences how the body responds to stress and helps maintain normal levels of glucose in the blood and blood pressure levels.

Though the features of combined pituitary hormone deficiency can vary, affected individuals often do not grow at the expected rate, and short stature usually becomes apparent in early childhood. Infants with combined pituitary hormone deficiency may have persistent yellowing of the skin and the whites of the eyes (jaundice), low levels of glucose in the blood (hypoglycemia), and genital abnormalities. Features of combined pituitary hormone deficiency include fatigue, changes in weight, delayed or absent puberty, and problems with fertility. Additional signs and symptoms may include abnormal development of the head and face (craniofacial abnormalities), brain abnormalities, recurrent seizures (epilepsy), and developmental delays. Some affected individuals have eye disorders. These include optic nerve hypoplasia, which is a disorder that affects the nerves that carry visual information from the eyes to the brain.

The signs and symptoms of combined pituitary hormone deficiency can resemble those seen in other disorders, which may delay a diagnosis. Because the signs and symptoms of combined pituitary hormone deficiency can vary widely and often overlap with other conditions, some researchers have suggested that combined pituitary hormone deficiency is part of a spectrum of related disorders rather than a single disorder.

Combined pituitary hormone deficiency can be congenital or acquired. Acquired combined pituitary hormone deficiency is caused by factors that occur later in life, such as infections or tumours. When combined pituitary hormone deficiency is not acquired, the condition is called congenital.

Inheritance patterns

The source lists the following possible inheritance patterns: Autosomal recessive; X-linked; Autosomal dominant+New variant. More than one pattern can apply in different cases.

Related genes

• FGFR1

• PROKR2

• CHD7

• SOX2

• PAX6

• HESX1

• OTX2

• PROP1

• FGF8

• BMP4

• GLI2

• GLI3

• FOXA2

• IGSF1

• POU1F1

• ROBO1

• SOX3

• TGIF1

• LHX3

• ARNT2

• PNPLA6

• RAX

• RNPC3

• ZSWIM6

• TCF7L1

• LHX4

• TBC1D32

Other names

CPHD

Panhypopituitarism