Extensive Bilateral Adrenal Rest Testicular Tumors in a Patient With 3β -Hydroxysteroid Dehydrogenase Type 2 Deficiency

Journal of the Endocrine Society
Evangelos LolisHenrik Falhammar

Abstract

Testicular adrenal rest tumors (TARTs) are presumably derived from ectopic adrenocortical tissue in the testis, affecting up to 49% to 94% of males with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Few reports have described TARTs in rarer forms of CAH such as 3β-hydroxysteroid dehydrogenase type 2 deficiency (3βHSD2D). A man with 3βHSD2D presented with massive bilateral testicular tumors. He had been treated with glucocorticoids and mineralocorticoids since infancy, with difficulties in suppressing dehydroepiandrosterone sulfate. At the age of 13 years, bilateral testicular lumps were found, and a radiologic diagnosis of TARTs was proposed. Subsequent sonographic examinations showed progression, despite intensifying his glucocorticoid therapy with metabolic complications. Following an open testicular biopsy, concerns of a Leydig cell tumor and risk of malignant transformation were raised, and because the patient also had local symptoms and azoospermia, he underwent bilateral orchiectomy at age 33 years. Histopathology was consistent with bilateral TARTs, exhibiting widespread immunoreactivity for adrenocortical markers, whereas no histological features of Leydig cell tumors were seen. The distinction ...Continue Reading

References

Jun 28, 2007·The Journal of Clinical Endocrinology and Metabolism·Hedi L Claahsen-van der GrintenAd R M M Hermus
Jun 9, 2009·Best Practice & Research. Clinical Endocrinology & Metabolism·H L Claahsen-van der GrintenA R M M Hermus
Dec 14, 2011·European Journal of Endocrinology·Henrik FalhammarMarja Thorén
Jan 10, 2012·Endocrine·Henrik Falhammar, Marja Thorén
Aug 2, 2016·Journal of Clinical Research in Pediatric Endocrinology·Ayla Güven, Seher Polat
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Oct 19, 2017·Endocrine Connections·Manon EngelsHedi L Claahsen-van der Grinten
Jan 18, 2018·European Journal of Endocrinology·M EngelsUNKNOWN dsd-LIFE group

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Citations

Mar 19, 2019·Endocrine Reviews·Manon EngelsHedi L Claahsen-van der Grinten
Apr 2, 2020·Frontiers in Behavioral Neuroscience·Elisabeth DaaeHenrik Falhammar
May 8, 2021·Endocrine Reviews·Hedi L Claahsen-van der GrintenPerrin C White

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Methods Mentioned

BETA
biopsy

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