Familial syndrome with panhypopituitarism, hypoplasia of the hypophysis, and poorly developed sella turcica.

Abstract

SUMMARY Two sisters who died at the ages of 2* 5 years and 5 weeks are described. Both showed signs of panhypopituitarism. At necropsy, no hypophysis could be found in the first child and a rudimentary and partly ectopic hypophysis was found in the other. Both children had a flat, poorly developed sella turcica, and the sellar anomaly could be seen in skull x-rays. These patients represent a hereditary syndrome characterised by neonatal panhypopituitarism, hypoplasia of the pituitary gland, and flat sella turcica.Congenital hypopituitarism may result from various anomalies of the hypophysis-such as absence, hypoplasia, or ectopia of the hypophysis. It also occurs in anencephaly and holoprosencephaly and may be connected with anomalies in the proximity of the hypophysis (e.g. cleft lip and palate with pituitary insufficiency, septo-optic dysplasia, and pituitary dwarfism) (Rimoin and Schimke, 1971). Patients with aplasia, hypoplasia, or ectopia of the hypophysis show signs of hypopituitarism soon after delivery, with persistent hypoglycaemia as the most conspicuous clinical feature. Hypoglycaemia usually leads to convulsions and brain damage (Steiner and Lawrence, 1953;Ehrlich, 1957;Aimone and Campagnoli, 1970;Moncrieff et al., 1972;Johnson et al., 1973). The sella turcica was normal in many of the cases with hypophyseal aplasia or hypoplasia (Steiner and Boggs, 1965) but there were reports of a small sella in some of these cases (Blizzard and Alberts, 1956;Dunn, 1966;Ferrier and Stone, 1969).We report 2 sisters who died at ages 2 5 years and 5 weeks, both ofwhom showed clinical symptoms suggestive of panhypopituitarism. At necropsy the hypophysis was hypoplastic or absent and the sella turcica poorly developed and flat; sellar abnormality could be demonstrated radiologically. Findings suggest that hypoplasia of the hypophysis with a flat, poorly developed sella is an inherited clinical syndrome with characteristic radiological features. Case reports The parents, both healthy, lived in an area known to contain genetic isolates but there was no known consanguinity. The mother suffered from hydramnios during both pregnancies and had had slight toxaemia and abnormal glucose tolerance tests during her second pregnancy. Case 1. This baby girl born by caesarean section weighing 3990 g died at age 2 -5 years. She had only one umbilical artery. Her eyes were small and deeply set and the frontal bone was prominent, but otherwise the appearance was normal. She was jaundiced for 2 weeks after delivery. Soon after birth she developed severe hypoglycaemia which was treated with parenteral glucose infusions and cortisone. Hydrocortisone twice a week maintained normal blood glucose levels for a few months. This treatment was stopped at the age of one year and hypoglycaemic attacks reappeared 6 months later. She later developed epilepsy, probably secondary to brain damage caused by hypoglycaemia. Growth in weight and height was retarded. She suffered numerous infections-pneumonia and urinary tract infections several times and vi...

Influence of Growth Hormone on Thymic Endocrine Activity in Humans

“…DNA synthesis in thy mus is strongly suppressed in these animals and can be restored by substitutive therapy with GH [14], More recently, it has also been reported that dwarf puppies have a subnormal thymic development associated with a wasting syndrome, and that therapy with bovine GH can prevent such an immunodeficiency [ 15], Few reports concern, at present, the role played by GH in the thymus development and function in humans. Isolated anterior pituitary aplasia is associated with hy poplasia of the thymus in addition to the more obvious hypoplasia of the peripheral endocrine glands [16]. Such observations were made at postmortem examinations.…”

“…8 were prepu bertal males with a mean chronological age of 12 years (range 9-14) and 3 were pubertal subjects with a mean chronological age of 16 years (range [15][16][17][18], though sexually underdeveloped. 10 healthy age-matched individuals served as control subjects.…”

“…In congenital isolated GH deficiencies no data are available as concerns the development of the thymus, but the observation both of an unusual susceptibility to severe infections [16] and of an altered profile of the T cell function [17] is suggestive of thymic failure.…”

Total Deficiency of Growth Hormone and Prolactin, and Partial Deficiency of Thyroid Stimulating Hormone in Two Dutch Families: a New Variant of Hereditary Pituitary Deficiency

“…Furthermore, a familial syndrome with panhypopi tuitarism, hypoplasia of the pituitary and poorly devel oped sella turcica has been reported [11][12][13] and also an autosomal recessive familial deficiency of growth hor mone and thyrotropin with a large sella turcica [14,15].…”

Reduced Pituitary Volume in Children with Short Stature: Clinical and Radiological Correlates

“…Measurement of sellar vol ume even by CT scanning was considered untrustworthy for reasons mentioned previously. Despite earlier studies corroborating a good correlation between sellar and pitu itary sizes in a normal population [1,29] and in children with congenital pituitary aplasia [33,34], there have been reports to the contrary [4]. The empty sella is the most recognized example of a discrepancy between a small pituitary gland and a large sella [3, 35,36].…”