RESUMO
Three sibs all presented in the early neonatal period with a salt-losing syndrome. The salt-losing form of congenital adrenal hyperplasia was diagnosed and appropriate treatment with glucocorticosteroids, mineralocorticosteroids, and additional dietary salt started. Although early life was maintained with difficulty, with age all 3 children required decreasing amounts of replacement steroids to maintain normal plasma electrolyte balance. They were reinvestigated at the ages of 15 years and 8 years (twins), when cortisol synthesis and metabolism proved normal, but aldosterone synthesis was blocked by deficiency of 18-dehydrogenase. Rational treatment of these cases of a salt-losing syndrome in which aldosterone synthesis alone is blocked due to lack of the enzyme 18-dehydrogenase requires the administration of a mineralocorticosteroid drug only. Since deoxycorticosterone (acetate or pivalate) requires intramuscular administration, as life-long therapy oral fludrocortisone is preferable. Although fludrocortisone has glucocorticoid activity, the "hydrocortisone equivalent" effect of the small dosage used was unlikely to inhibit either pituitary corticotrophin or growth hormone production.
Assuntos
Insuficiência Adrenal/genética , Aldosterona/deficiência , Hidroxiesteroide Desidrogenases/deficiência , Desequilíbrio Hidroeletrolítico/etiologia , Adolescente , Insuficiência Adrenal/tratamento farmacológico , Criança , Desenvolvimento Infantil , Pré-Escolar , Feminino , Fludrocortisona/uso terapêutico , Crescimento/efeitos dos fármacos , Humanos , Recém-Nascido , Doenças do Recém-Nascido , Masculino , Cloreto de Sódio/uso terapêuticoRESUMO
A newborn infant had rectal prolapse, congenital lactase deficiency, and temporary neonatal thyrotoxicosis. The thyrotoxicosis was associated with a raised long-acting thyroid stimulator index in a mother with no personal or family history of thyroid or related autoimmune disease. The parents were first cousins.
Assuntos
Hipertireoidismo , Doenças do Recém-Nascido , Feminino , Humanos , Hipertireoidismo/complicações , Recém-Nascido , Intolerância à Lactose/complicações , Prolapso Retal/complicaçõesRESUMO
We report the case of a female infant born with cytomegalic inclusion disease, in whom bone changes were present in x-rays of the tibiae and femora. She was the mother's first child and was born 8 days postmature after a normal delivery; birthweight 2.52 kg. Many infarcts were seen in the placenta. The mother had a feverish illness at the 7th month of gestation, diagnosed by family doctor as influenza. No drugs had been given.
