Severe adrenal hypoplasia in a live-born normocephalic infant with neurohypophyseal aplasia

Aimone, V; Campagnoli, C

doi:10.1016/0002-9378(70)90609-5

Cited by 4 publications

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References 5 publications

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“…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).…”

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confidence: 99%

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

Sipponen¹,

Similä²,

Collan³

et al. 1978

Archives of Disease in Childhood

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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...

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confidence: 99%

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

Sipponen¹,

Similä²,

Collan³

et al. 1978

Archives of Disease in Childhood

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Adrenal hypoplasia and pituitary agenesis in a normocephalic infant, with a review of the literature

Newman

Welch

Challis

1988

J Paediatrics Child Health

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A case of adrenal hypoplasia and pituitary agenesis in a normocephalic female infant is described. Twentyeight other cases from the world literature were reviewed. There were 18 females and 11 males. More than one affected infant was described in five families, suggesting autosomal recessive inheritance. The mode of presentation, subsequent course, pathology and possible pathogenesis are discussed.Key words: adrenal hypoplasia; newborn; pituitary agenesis.Adrenal hypoplasia in association with cerebral abnormalities has been known since the time of Morgagni, and the association between pituitary hypoplasia and adrenal hypoplasia in anencephaly has been well d e s~r i b e d . '~ Sikl in 1948 was probably the first to describe adrenal hypoplasia with normocephaly, although the pituitary was normaL5 The first description of adrenal hypoplasia with pituitary hypoplasia and normocephaly, however, was by Mosier in 1956.6 The combination of adrenal hypoplasia and pituitary hypoplasia or agenesis is extremely rare. Only 28 such cases have been found in the literature including the first description by Mosier in 1956. A case of adrenal hypoplasia and pituitary agenesis is reported. CASE REPORTThe mother was a healthy 23 year old primigravid who, following spontaneous rupture of membranes after 36 weeks' gestation, had a normal delivery of a 2630 g female infant. Apgar scores were 7 at 1 min and 9 at 5 min. The mother's blood group was 0 Rhesus positive. Physical examination of the baby did not reveal any abnormalities. On the first day, however, she developed asymptomatic hypoglycaemia, with a blood glucose concentration at 1 h of 1.00 mmolll. Blood glucose values ranged 0.4-1.1 mmolll during the next 23 h.At this point an intravenous infusion of 10% dextrose with calcium gluconate was given with a subsequent improvement in the blood glucose levels. Estimation of electrolyte concentrations at 36 h showed sodium 127 mmolll, potassium 7.0 mmolll, calcium 2.41 mmolll and creatinine 93 pmolll. This suggested possible adrenal failure. The idea was not pursued,

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Underdevelopment of the Pituitary

Crome

1974

Develop Med Child Neuro

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Severe adrenal hypoplasia in a live-born normocephalic infant with neurohypophyseal aplasia

Cited by 4 publications

References 5 publications

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

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

Adrenal hypoplasia and pituitary agenesis in a normocephalic infant, with a review of the literature

Underdevelopment of the Pituitary

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