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Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life
- Source :
- Journal of the Endocrine Society
- Publication Year :
- 2018
- Publisher :
- The Endocrine Society, 2018.
-
Abstract
- Classic forms of 21-hydroxylase deficiency (21OHD) are usually diagnosed at birth by salt wasting or precocious puberty in male patients. Here we report the case of a 32-year-old male patient who presented with azoospermia and bilateral testicular tumors. He was referred to our endocrine unit after testicular surgery. His gonadotropins were undetectable. Liquid chromatography–tandem mass spectrometry revealed a high serum progesterone level, high 17-hydroxyprogesterone (17OHP) (255 ng/mL), and high levels of 17OHP metabolites, suggesting a classic form of 21OHD. His blood pressure was normal. Molecular analysis showed a homozygous large 21-hydroxylase gene (CYP21A2) conversion. Furthermore, an adrenal CT scan revealed voluminous, heterogeneous bilateral and asymmetric adrenal masses containing calcifications. Our case report illustrates the fact that a classic form of 21OHD can be diagnosed in late adulthood, manifested by azoospermia and large adrenal tumors, associated with elevated 17OHP.<br />We describe a severe form of 21OHD diagnosed in late adulthood, in front of bilateral testicular tumors, azoospermia, and large bilateral adrenal masses, mimicking adrenocortical carcinoma.
- Subjects :
- Azoospermia
Pathology
medicine.medical_specialty
business.industry
azoospermia
Endocrinology, Diabetes and Metabolism
Case Report
030209 endocrinology & metabolism
medicine.disease
Molecular analysis
03 medical and health sciences
0302 clinical medicine
Blood pressure
21 hydroxylase deficiency
adrenal tumors
Reproductive Biology and Sex-Based Medicine
030220 oncology & carcinogenesis
TARTs
medicine
Precocious puberty
Endocrine system
Congenital adrenal hyperplasia
business
Salt-wasting
Adrenal tumors
Subjects
Details
- ISSN :
- 24721972
- Volume :
- 2
- Database :
- OpenAIRE
- Journal :
- Journal of the Endocrine Society
- Accession number :
- edsair.doi.dedup.....a3ec9eb1af5066c70d7af1c62b36998c