Clinical Features of Pituitary Hypoplasia Associated with Midline Facial Defects and Multiple Pituitary Hormone Deficiencies (MPHD)

Description

The pituitary gland is formed by fusion of midline structures. The anterior and intermediate portions are derived from ectoderm of Rathke's pouch while the posterior lobe and infundibulum arise from the diencephalic forebrain. Failure of normal development can result in a defective pituitary gland with one or more hormone deficiencies.

Associated malformations or defects:

(1) optic nerve hypoplasia (see septo-optic dysplasia, Chapter 19)

(2) mid-face hypoplasia and frontal bossing

(3) anencephaly or holoprosencephaly

(4) single central incisor or delayed dentition

(5) cleft lip and palate

(6) hypospadias, microphallus and/or cryptorchidism

(7) small stature

Clinical findings in the neonatal period:

(1) unexplained hypoglycemia

(2) prolonged hyperbilirubinemia

(3) hyponatremia

(4) clinically unstable

An infant with one or more of these findings should be evaluated for hypopituitarism.

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Description

Specialty

ICD-10