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vol. 16
Letter to the Editor

Testicular adrenal rest tumors diagnosed on ultrasound with a history of congenital adrenal hyperplasia and medication non-compliance

Tariq Rashid
Andrzej Jedynak
Pierre-Yves Sonke
Irene Weiss
Wilbert S. Aronow

Department of Radiology, Westchester Medical Center and New York Medical College, Valhalla, NY, USA
Division of Endocrinology, Westchester Medical Center and New York Medical College, Valhalla, NY, USA
Department of Medicine, Division of Cardiology, Westchester Medical Center and New York Medical College, Valhalla, NY, USA
Arch Med Sci 2020; 16 (6): 1501–1504
Online publish date: 2020/11/02
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Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders in steroid and glucocorticoid synthesis including cortisol and aldosterone, secondary to an enzymatic deficiency. In 21-hydroxylase deficiency (21-OHD), the most common form of CAH accounting for > 90% of cases, the impaired production of cortisol and aldosterone triggers an enzymatic cascade leading to overproduction of adrenocorticotropic hormone (ACTH), adrenal hyperplasia, and excess adrenal androgen production. In its most severe form, the classic salt wasting variety, patient presentation is usually in infancy with salt wasting and dehydration secondary to an Addisonian crisis. Female infants with the classic form present with ambiguous genitalia due to elevated adrenal androgens. A less severe form of classic CAH due to 21-OHD presents without salt wasting; male children with this present with signs of virilization in early childhood, if they had not been identified by neonatal screening. Milder cases of CAH due to 21-OHD, the late-onset (nonclassic) form, are much more common than the classic forms, and may present with a spectrum of clinical signs and symptoms including precocious puberty, hirsutism, and oligomenorrhea. Male patients with the classic forms frequently develop testicular adrenal rest tumors (TARTs), which are benign masses within the rete testes and frequently cause infertility. Conversely, those with the more common late-onset (non-classic) form rarely develop TARTs. TARTs may also develop in men with the much rarer CAH due to 11-hydroxylase deficiency, which occurs in up to 5% of cases, and typically presents with hypertension, hypokalemia, and sexual precocity or early puberty. Other forms of CAH are exceedingly rare. Mainly, 17-OHD and combined 17-OHD/17-20 lyase deficiency can cause hypertension, hypokalemia, and abnormal sexual development.
A 33-year-old man presented to the endocrinology department with a chief complaint of leg cramps. The patient was diagnosed with congenital adrenal hyperplasia due to 21-OHD at age 2 weeks. He had been receiving steroid supplementation for the majority of his life, but admitted to poor compliance with medications and medical care for about 3 years mostly due to his tenuous health insurance situation. Four days before his appointment he developed leg cramps after vigorous exercise. He was married for 2 years and recently he and his wife had been trying to conceive, without success. He had...

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