Adrenal adenoma secreting 17-hydroxyprogesterone mimicking non-classical 21-hydroxylase deficiency

In adrenal steroidogenesis, 17-hydroxyprogesterone (17-OHP) is a substrate for 21-hydroxylase, one of the crucial enzymes of the cortisol and aldosterone biosynthesis pathway. Thus, measurement serum 17-OHP concentration is used when the diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hy...

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Published in:Frontiers in endocrinology (Lausanne) 2024-11, Vol.15, p.1499836
Main Authors: Woźniak, Beata, Leszczyńska, Dorota, Szatko, Alicja, Nowak, Karolina, Samsel, Radosław, Siejka, Anna, Papierska, Lucyna, Zgliczyński, Wojciech, Falhammar, Henrik, Glinicki, Piotr
Format: Article
Language:English
Subjects:
17-alpha-Hydroxyprogesterone - blood
17-alpha-Hydroxyprogesterone - metabolism
17-OHP
Adenoma - diagnosis
Adenoma - metabolism
Adrenal Gland Neoplasms - diagnosis
Adrenal Gland Neoplasms - metabolism
Adrenal Hyperplasia, Congenital - diagnosis
Adrenal Hyperplasia, Congenital - metabolism
adrenal incidentaloma
adrenal tumors
Adrenocortical Adenoma - diagnosis
Adrenocortical Adenoma - metabolism
CAH
congenital adrenal hyperplasia
Diagnosis, Differential
Endocrinology
Humans
Steroid 21-Hydroxylase - metabolism
urine steroid profile
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Summary:In adrenal steroidogenesis, 17-hydroxyprogesterone (17-OHP) is a substrate for 21-hydroxylase, one of the crucial enzymes of the cortisol and aldosterone biosynthesis pathway. Thus, measurement serum 17-OHP concentration is used when the diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is suspected. In the classic 21-hydroxylase deficiency, randomly timed measurements of 17-OHP are generally significantly elevated using different immunoassays. In the non-classic form of CAH (NC-CAH), the activity of 21-hydroxylase is less decreased, therefore the measurements of 17-OHP after ACTH stimulation test are usually required for diagnosis. Nonetheless, elevated 17-OHP concentration may also origin from adrenal tumors or ovarian neoplasms as a result of defects in steroidogenesis with an accumulation of steroids precursors. The presented cases and the literature review draw attention to the occurrence of rare causes of benign adrenal adenomas with steroidogenesis defects which may lead to a misdiagnosis of CAH.
ISSN:1664-2392
1664-2392
DOI:10.3389/fendo.2024.1499836