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A Case of Congenital Isolated adrenocorticotropic hormone Deficiency Caused by Two Novel Mutations in the TBX19 Gene

作者:Weijing Kong 等 日期:2019-12-04 浏览量:83

第七届北京罕见病学术大会暨2019京津冀罕见病学术大会征文(137)

Weijing Kong1, 2, Pei Zhang1, Tiantian Zhang1, Liping Zou1, Yan Meng*1

1. Chinese PLA General Hospital, Beijing, 100039

2. Beijing Friendship Hospital, Capital Medical University, Beijing, 100050

Objectives Congenital isolated adrenocorticotropic hormone(ACTH) deficiency (CIAD) is a rare disorder, characterized by severe hypoglycemia, which can result in 20% mortality in the neonatal period if misdiagnosis. Here, we report the case of a boy with CIAD who presented with recurrent hypoglycemia and seizure caused by two novel TBX19 mutations.

Methods After evaluating clinical data of the patient who visited our hospital with recurrent hypoglycemia and seizure more than 2 years, laboratory and genetic testing were then performed.

Results A 2.6-year-old boy hospitalized many times because of recurrent hypoglycemia. On initial physical examination, the boy showed special appearance and sign of growing fast (≥P97). Laboratory investigations revealed low level of ACTH and cortisol in plasma. Anterior pituitary hormone concentrations, except thyroid-stimulating hormone, were normal. Molecular data showed compound heterozygosity for two novel mutations in the TBX19 gene. c.205C>T was from mother and fragment deletion (from g.168,247,374 to g.168,278,264) was from farther. Hydrocortisone replacement therapy is effective.

Conclusions We reported two novel mutations, expanding the mutation spectrum of this disorder, in the TBX19 gene in a CIAD patient who presented with special appearance, sign of growing fast and thyroid-stimulating hormone derangement. In addition, for avoiding misdiagnosis, criterion for ACTH and cortisol detection of CIAD should be found.