Answer and Discussion of Quiz Set: U-001

4.    Agenesis of anterior pituitary can occur in Pallister-Hall syndrome?

A.  True

B.  False

Answer and Discussion: The answer is (A). Pallister-Hall syndrome is an extremely rare disorder resulted from mutation of GLI3 gene. This is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, cutaneous syndactyly, and visceral malformations such as bifid epiglottis, an obstruction of the anal opening (imperforate anus), and kidney abnormalities. The hypothalamic do not usually causes any medical problems. When it has manifestations, it could cause seizures or hormone abnormalities that can be life-threatening in infancy. Agenesis of anterior pituitary can be seen in Pallister-Hall syndrome. Pituitary primordium appears at about 4 weeks of gestation. One of the causes of genesis may be attributed to the formation of the primary hypothalamic ganglionic hamartoma overlapping with the time occurrence of the pituitary primordium. Displaced  pituitary has also been described in Pallister-Hall syndrome.

Further Reading:

Hori A, Schmidt D, Kuebber S. Immunohistochemical survey of migration of human anterior pituitary cells in developmental, pathological, and clinical aspects: a review. Microsc Res Tech. 1999 Jul 1;46(1):59-68.

Topf KF, Kletter GB, Kelch RP, Brunberg JA, Biesecker LG. Autosomal dominant transmission of the Pallister-Hall syndrome. J Pediatr. 1993 Dec;123(6):943-6.