Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: one case report
10.3760/cma.j.cn311282-20190710-00265
- VernacularTitle:家族性糖皮质激素缺乏症MRAP突变新生儿一例病例报告
- Author:
Yingfang YU
1
;
An CHEN
;
Jiyan ZHENG
;
Lihua CHEN
;
Lizhong DU
Author Information
1. 浙江大学医学院附属儿童医院新生儿科，杭州 310052
- From:
Chinese Journal of Endocrinology and Metabolism
2020;36(4):294-298
- CountryChina
- Language:Chinese
-
Abstract:
The clinical manifestation, laboratory findings, and imaging examination of a baby with familial glucocorticoid deficiency were summarized. The patient presented achypnea, cyanosis, and pigmentation of the whole body skin, no convulsion and hypoglycemia found. Laboratory findings revealed low blood cortisol and high blood ACTH levels. A 1-bp homozygous deletion(c.106+ 1delG) in intron 3 of melanocortin 2 receptor accessory protein(MRAP) gene in the patient was found. His parents were found to be heterozygous carrier for the same mutation, without any clinical manifestation.
