Abstract
CH, usually accompanied by hypoadrenalism, often by hypogenitalism and hypothyroldism, is a neonatal emergency, presenting with apnea, cyanosis and intractable hypoglycemia (HG). In two female infants, simultaneous occurrence of congenital hypothyroidism with intractable HG permitted clinical diagnosis.
One infant, B.D. 8/12/70, presented with glucose 17mg% and PBI 2.5mcg%. The HG was then ascribed to hyperinsulinism and it was not until after diazoxide therapy and subtotal pancreatectomy were unsuccessful that CH was documented with absent HGH response to L-DOPA and characteristic findings of adrenal insufficiency. Therapy with T4 and cortisol was successful until she succumbed at age 3 to an intercurrent illness with features of adrenal crisis. In the second, B.D. 5/22/73, the diagnosis was established on the 2nd day of life after similar presentation with glucose 25mg% and T4 of 1 4mcg%. Despite appropriate therapy, this infant succumbed on day 11. Autopsies revealed absent pituitary and sella turcica with hypoplastic adrenals, thyroid and ovaries in the first; and pituitary aplasia with absent thyroid and right adrenal plus hypoplastic left adrenal in the other infant.
CH is a potentially treatable disorder despite the fatal outcome in our cases. Although HG and microphallus in males have been emphasized as distinctive presenting signs, the diagnosis should also be suspected and vigorous therapy instituted in any infant, regardless of sex, with coexistent HG and hypothyroidism.
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Kauschansky, A., Genel, M. & Pearson, H. CONGENITAL HYPOPITUITARISM (CH) IN FEMALE INFANTS: PRESENTATION WITH HYPOGLYCEMIA AND HYPOTHYROIDISM. Pediatr Res 11, 427 (1977). https://doi.org/10.1203/00006450-197704000-00345
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DOI: https://doi.org/10.1203/00006450-197704000-00345