Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation

BMC Endocrine Disorders

Xia Liu¹  Zhe Su¹  Li Wang¹  Lili Pan¹  Xiu Zhao¹  Shoulin Li²  Jianming Song³  Pengqiang Wen⁴  Yungen Gan⁵ 

[1] Department of Endocrinology, Shenzhen Children’s Hospital;Department of Urology, Shenzhen Children’s Hospital;Pathology Department, Shenzhen Children’s Hospital;Pediatrics Research Institute, Shenzhen Children’s Hospital;Radiology Department, Shenzhen Children’s Hospital;

关键词: Congenital lipoid adrenal hyperplasia;    Steroidogenic acute regulatory protein;    Mutation;    Growth;   

DOI  :  10.1186/s12902-018-0307-6

来源: DOAJ

【 摘 要 】

Abstract Background Congenital lipoid adrenal hyperplasia (CLAH) is an extremely rare and the most severe form of congenital adrenal hyperplasia. Typical features include disorder of sex development, early-onset adrenal crisis and enlarged adrenal glands with fatty accumulation. Case presentation We report a case of CLAH caused by mutations in the steroidogenic acute regulatory protein (StAR) gene. The patient had typical early-onset adrenal crisis at 2 months of age. She had normal-appearing female genitalia and a karyotype of 46, XY. The serum cortisol and adrenal steroids levels were always nearly undetectable, but the adrenocorticotropic hormone levels were extremely high. Genetic analysis revealed compound heterozygous mutations at c. 229C > T (p.Q77X) in exon 3 and c. 722C > T (p.Q258X) in exon 7 of the StAR gene. The former mutation was previously detected in only two other Chinese CLAH patients. Both mutations cause truncation of the StAR protein. The case reported here appears to be a classic example of CLAH with very small adrenal glands and is the second reported CLAH case with small adrenal glands thus far. In a 15-year follow-up, the patient’s height was approximately average for females before age 4 and fell to − 1 SDS at 10 years of age. Her bone age was similar to her chronological age from age 4 to age 15 years. Conclusions In conclusion, this is a classic case of CLAH with exceptionally small adrenal glands. Q77X mutation seems to be more common in Chinese CLAH patients. Additionally, this is the first report of the growth pattern associated with CLAH after a 15-year follow-up.

【 授权许可】

Unknown