TY - JOUR
T1 - Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency
AU - Higa, Moritake
AU - Zaha, Akiko
AU - Takushi, Akiko
AU - Morishima, Nami
AU - Majikina, Toyofumi
AU - Touma, Takeshi
AU - Shimabukuro, Michio
AU - Masuzaki, Hiroaki
AU - Honda, Misa
AU - Hasegawa, Tomonobu
N1 - Funding Information:
This work was supported by a Grant-in-Aid from the Ministry of Health, Labor and Welfare of Japan (Nanjiseisikkanseisakukenkyujigyo (20FC1020)).
Funding Information:
Tomonobu Hasegawa has the following financial relationships to disclose: research funding from Novo Nordisk Pharma Ltd. and JCR Pharmaceuticals Co., Ltd.
Publisher Copyright:
© 2021, The Author(s).
PY - 2021/12
Y1 - 2021/12
N2 - 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.
AB - 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.
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U2 - 10.1038/s41439-021-00138-w
DO - 10.1038/s41439-021-00138-w
M3 - Article
AN - SCOPUS:85100429254
SN - 2054-345X
VL - 8
JO - Human Genome Variation
JF - Human Genome Variation
IS - 1
M1 - 6
ER -