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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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7859387 | PMC |
| http://dx.doi.org/10.1038/s41439-021-00138-w | DOI Listing |
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