Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: one case report / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
;
(12): 294-298, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-870030
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Chinese Journal of Endocrinology and Metabolism
Año:
2020
Tipo del documento:
Artículo
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