Congenital lipoid adrenal hyperplasia (CLAH) is the most severe and extremely rare form of congenital adrenal hyperplasia (CAH). The typical features include 46, XY disorder of sex development (DSD), early-onset adrenal crisis and enlarged adrenal with fatty accumulation. We reported a case of congenital lipoid adrenal hyperplasia (CLAH) caused by steroidogenic acute regulatory protein (STAR) gene mutation. The patient had typical early-onset adrenal crisis at the age of 2 months. She had normal-appearing female genitalia with karyotype of 46, XY. Her serum cortisol and adrenal steroids levels were always nearly undetectable along with extremely high ACTH. Genetic analysis revealed compound heterozygous mutations for c. 229C>T in exon 3 and c. 722C>T in exon 7 of the STAR gene. The former one was previously only detected in two other Chinese patients of CLAH. It changed glutamine 258 to terminator codon and the synthesis of STAR protein is terminated much earlier on the crucial carboxyl-terminal. This seemed to be a classical case of CLAH except that the patients adrenal glands were very small on CT scanning. It should be so far the second reported case of CLAH with small adrenals. This patient had been followed up for 15 years from the 2nd month after birth. We showed the first growth curve of this kind of patient. Her height was around female average before the age of 10 years and fallen to -1SD thereafter. Her bone age was similar to her chronological age from the age of 4 years to 15 years. In conclusion, this was a classical case of CLAH but with exceptional small adrenals. After a 15-year follow-up, we presented the first growth curve of this kind of patient.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology