Non-classic lipoid adrenal hyperplasia: clinical cases report
I. G. Sichinava,
E. S. Demina,
E. M. Sharibzhanova,
L. S. Sozaeva,
E. E. Petryaykina,
A. N. Tiulpakov https://doi.org/10.14341/probl13589
Abstract
Lipoid adrenal hyperplasia (LAH) is a rare severe form of congenital adrenal hyperplasia, which is caused by mutations in the STAR gene (8p11.2), encoding the transport protein StAR. The defect of the StAR protein leads to a total disruption of adrenal and gonadal steroidogenesis. The division into the classic form of the disease, in which all steroidogenesis is disrupted, and the non-classic, in which only adrenal steroidogenesis is usually disrupted, is a generally accepted classification of LAH. We report two cases of patients with clinical and laboratory data indicating a non-classic LAH. Both patients with 46,XY karyotype presented late (at 5 and 3 years) manifestation of clinical symptoms and had normal male external genitalia. Homozygous mutation p.R188C in one patient and compound heterozygous mutations p.R188C and p.R272H in the other were identified by molecular genetic assay. STAR genetic testing allowed to diagnose non-classic LAH in differential diagnosis of hypocorticism.
About the Authors
I. G. Sichinava
Pirogov Russian National Research Medical University
Россия
Россия
Irina G. Sichinava, PhD
1 Ostrovityanova street, 117513 Moscow
E. S. Demina
Pirogov Russian National Research Medical University;
Russian Children’s Clinical Hospital
Россия
Россия
Elena S. Demina, PhD
Moscow
E. M. Sharibzhanova
Russian Children’s Clinical Hospital
Россия
Россия
Evgenia V. Sharibzhanova
Moscow
L. S. Sozaeva
Endocrinology Research Center
Россия
Россия
Leila S. Sozaeva, PhD
Moscow
E. E. Petryaykina
Pirogov Russian National Research Medical University;
Russian Children’s Clinical Hospital
Россия
Россия
Elena E. Petryaykina, MD, PhD, Professor
Moscow
A. N. Tiulpakov
Russian Children’s Clinical Hospital;
Research Center for Medical Genetics
Россия
Россия
Anatoly N. Tiulpakov, MD, PhD, Professor
Moscow
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For citations:
Sichinava I.G., Demina E.S., Sharibzhanova E.M., Sozaeva L.S., Petryaykina E.E., Tiulpakov A.N. Non-classic lipoid adrenal hyperplasia: clinical cases report. Problems of Endocrinology. 2025;71(6):102-107. (In Russ.) https://doi.org/10.14341/probl13589
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