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Late-diagnosed salt-wasting congenital adrenal hyperplasia in adult patient

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We describe a unique case of diagnosing salt-wasting congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency in a 32-year-old male patient. Before establishing the diagnosis, the main patient complaint was infertility. In childhood, the patient suffered from developmental delay, often illness, overconsumption of salt, and often vomiting; he stopped growing at the age of 12 years. In the adolescent period, his physical condition improved. Later, the patient got married, but was infertile. Plasma steroid profiling by gas chromatography-mass spectrometry (GC-MS) revealed markedly increased levels of 17-hydroxyprogesterone and 21-deoxycortisol and a decreased cortisol level, which enabled the diagnosis of CAH and 21-hydroxylase deficiency. The diagnosis was confirmed by a molecular genetic study that detected a CYP21 gene mutation — l2 splice in the homo(hemi)zygotic state, which was characteristic of the salt-wasting form of CAH. Also, the patient had secondary adrenal cortical adenoma caused by prolonged ACTH hyperstimulation and secondary hypogonadism associated with excessive production of adrenal androgens, which led to elevated levels of estrogens inhibiting production of LH and FSH. Treatment of the patient with glucocorticoids and mineralocorticoids and then with androgens improved his clinical condition and hormonal parameters.

Liudmila Ya. Rozhinskaya

Endocrinology Research Centre

Author for correspondence.
Email: rozhinskaya@rambler.ru
ORCID iD: 0000-0001-7041-0732
SPIN-code: 5691-7775

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036

MD, PhD, professor, chief researcher in neuroendocrinology and bone diseases department

Natalia Yu. Kalinchenko

Endocrinology Research Centre

Email: kalinnat@rambler.ru
ORCID iD: 0000-0002-2000-7694
SPIN-code: 6727-9653

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036

MD, PhD, research scientist in thydoidology, reproductive and somatic development department

Zhanna E. Belaya

Endocrinology Research Centre

Email: jannabelaya@gmail.com
ORCID iD: 0000-0002-6674-6441
SPIN-code: 4746-7173

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036

MD, PhD, head of neuroendocrinology and bone diseases department

Tatiana S. Zenkova

Endocrinology Research Centre

Email: tatianazenkova@rambler.ru
ORCID iD: 0000-0002-7724-1617
SPIN-code: 2154-5837

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036

PhD, MD in neuroendocrinology and bone diseases department

Alexander S. Lutsenko

Endocrinology Research Centre

Email: some91@mail.ru
ORCID iD: 0000-0002-9314-7831
SPIN-code: 4037-1030

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036

research scientist of neuroendocrinology and bone diseases department

Asiyat A. Bittirova

Endocrinology Research Centre

Email: asia00793@mail.ru
ORCID iD: 0000-0002-2254-2228
SPIN-code: 3383-0420

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036


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Supplementary files

Supplementary Files Action
1. Fig. 1. Appearance of the patient O. at the time of treatment in the Federal State Institution "Endocrinology Research Center" of the Ministry of Health of Russia. View (342KB) Indexing metadata
2. Fig. 2. MSCT of the abdominal cavity of the patient O. View (658KB) Indexing metadata


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Copyright (c) 2018 Rozhinskaya L.Y., Kalinchenko N.Y., Belaya Z.E., Zenkova T.S., Lutsenko A.S., Bittirova A.A.

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