Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency

Moritake Higa,Akiko Takushi,Michio Shimabukuro,Hiroaki Masuzaki,Nami Morishima,Tomonobu Hasegawa,Toyofumi Majikina,Misa Honda,Takeshi Touma,Akiko Zaha

doi:10.1038/s41439-021-00138-w

Abstract

We report the first case of classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency. We identified pathogenic variants in the STAR gene: a novel variant of c.126_127delCCinsG, namely, p.Thr44Profs*2 and an already reported variant of c.634C>T, namely, p.Gln212*. The association with combined pituitary hormone deficiency might be just a coincidence.

Highlights

1234567890():,; 1234567890():,; 1234567890():,; 1234567890():,; Lipoid congenital adrenal hyperplasia (LCAH; OMIM 201710) is an autosomal recessive disease caused by biallelic pathogenic variants in the STAR gene[1]
Combined pituitary hormone deficiency (CPHD) is a congenital condition that causes deficiencies in more than two hormones produced by the pituitary gland
For the first time, a Japanese female with classic LCAH and CPHD

Summary

Introduction

1234567890():,; 1234567890():,; 1234567890():,; 1234567890():,; Lipoid congenital adrenal hyperplasia (LCAH; OMIM 201710) is an autosomal recessive disease caused by biallelic pathogenic variants in the STAR gene[1]. 30 genes have been identified as responsible for CPHD5. For the first time, a Japanese female with classic LCAH and CPHD.

Results

Conclusion