Malpuech G, Vanlieferinghen P, Dechelotte P, Gaulme J, Labbé A, Guiot F
Clinique Médicale Infantile A, Hotel-Dieu, Clermont-Ferrand, France.
Am J Med Genet. 1988 Jan;29(1):125-30. doi: 10.1002/ajmg.1320290115.
We report on a brother and sister with adrenal insufficiency due to isolated adrenocorticotropin hormone deficiency discovered in the neonatal period. The first-born, a male infant, died; pathological findings suggested bilateral adrenal hypoplasia transmitted as an autosomal recessive trait. Plasma estriol levels were assayed during the mother's next pregnancy. The prenatal diagnosis allowed immediate and effective management of the second affected child. The supplementary evidence from the endocrine findings, unavailable on her brother, enabled us to make a diagnosis of isolated central ACTH deficiency. As the defect was found in infants of both sexes in the same family, it is in all likelihood transmitted as an autosomal recessive trait. We consider it important for genetic counselling to perform autopsies on all newborn infants whose death has no apparent cause. Maternal plasma estriol assays during pregnancy can help diagnose fetal adrenal insufficiency, whether the defect is central or adrenal.
我们报告了一对因新生儿期发现的孤立性促肾上腺皮质激素缺乏而导致肾上腺功能不全的兄妹。长子为男婴，已死亡；病理检查结果提示双侧肾上腺发育不全，呈常染色体隐性遗传特征。在母亲再次怀孕时检测了血浆雌三醇水平。产前诊断使得对第二个患病孩子能够立即进行有效治疗。其哥哥没有的内分泌检查补充证据，使我们能够诊断出孤立性中枢性促肾上腺皮质激素缺乏。由于在同一家族的男女婴儿中均发现了该缺陷，很可能是作为常染色体隐性特征遗传的。我们认为，对所有死因不明的新生儿进行尸检对于遗传咨询很重要。孕期检测母体血浆雌三醇有助于诊断胎儿肾上腺功能不全，无论该缺陷是中枢性的还是肾上腺性的。
