Testicular Adrenal Rest Research Articles

Testicular adrenal rests in a patient with congenital adrenal hyperplasia: a case report and literature review

Testicular adrenal rests in a patient with congenital adrenal hyperplasia: a case report and literature review

SUN-389 Consequences of Late Diagnosis of 11β-Hydroxylase Deficiency

Background: Steroid 11β-hydroxylase (CYP11B1) deficiency (11βOHD) is the second most common form of congenital adrenal hyperplasia (CAH). CAH is more likely to be missed in boys, particularly in patients with 11βOHD. Here, we report two boys with 11βOHD who presented late and the consequences of late diagnosis in them. Case presentation: Case 1: A-4-year-old boy presented with acne, appearance of axillary and pubic hair since the age of 3 years. Examination revealed tall stature (height z score: 4.6; predicted adult height <143 cm), hypertension (BP = 130/80 mmHg), P4, G3 (stretched phallic length: 8.5 cm) and nodular testes measuring 2 cc on right and 3 cc on left. His bone age was 13 years and had mild hypokalemia (serum potassium: 3.3 mEq/L). Serum total testosterone was elevated (263.13 ng/dl) with suppressed LH (0.04 mIU/ml). Serum 8:00 am cortisol was low (0.71 µg/dl) with markedly elevated corticosterone levels (>5000 ng/dl) and deoxycortisol (>1000 ng/dl). 17OHP was slightly elevated (334.73 ng/dl). Ultrasound scrotum revealed the presence of testicular adrenal rests (TARTs) in both testes. He had grade 1 hypertensive retinal changes and concentric left ventricular hypertrophy. Case 2: A-12-year-old presented with hypertensive encephalopathy. On examination he had normal stature for age (height: 138 cm; ≈predicted adult height =short), P4, G4 (stretched phallic length: 9 cm) and nodular testes measuring 4 cc on right and 6 cc on left. His bone age was 18 years and serum potassium was 2.67 mEq/L. Serum total testosterone was 229.77 ng/dl but LH was suppressed (0.03 mIU/ml). Serum 8:00 am cortisol level was low (0.39 µg/dl) with markedly elevated corticosterone levels (>5000 ng/dl) and deoxycortisol (>2000 ng/dl). 17OHP was slightly elevated (239.3 ng/dl). Ultrasound scrotum revealed bilateral TARTs. He had grade 1 hypertensive retinal changes and mild concentric left ventricular hypertrophy. Conclusion: Late diagnosis is common in boys with classic 11βOHD. It leads to disastrous complications such as hypertensive encephalopathy and/or hypertensive end organ damage, significantly compromises adult height potential and may have adverse impact on future fertility. Hence, early diagnosis of 11βOHD is essential.

A Klinefelter boy with congenital adrenal hyperplasia: too much or too little androgens?

BackgroundThe simultaneous occurrence of Klinefelter Syndrome (KS) and Congenital Adrenal Hyperplasia (CAH) is an exceptional event: there are just three case reports (two children and a 51 years old man) describing males affected by both KS and 21OHD (21-hydroxylase deficiency) CAH, the first causing androgen deficiency, the latter leading to androgen excess.Case reportWe report the 4th case of association of KS and CAH in a young man with CAH with good androgen control and with normal secondary sex characteristics, whose Klinefelter syndrome was diagnosed because of reduced testicular volume. He was the first reported case of association of KS and CAH who started androgen replacement therapy in the pubertal age and whose pubertal development was described and followed up step by step.ConclusionIn a boy with CAH and small testicular volume, it’s important to consider that hypogonadism may be masked by the adrenal androgens excess and a karyotype should be performed once testicular adrenal rests have been ruled out.

A Case of congenital adrenal hyperplasia with testicular and intraabdominal adrenal rest tumor presented with testicular mass

A Case of congenital adrenal hyperplasia with testicular and intraabdominal adrenal rest tumor presented with testicular mass

Clinical Characteristics of a Cohort of 244 Patients with Congenital Adrenal Hyperplasia

Patients with congenital adrenal hyperplasia (CAH) often suffer from long-term complications secondary to chronic glucocorticoid therapy and suboptimal treatment regimens. The aim of the study was to describe clinical characteristics of a large cohort of pediatric and adult CAH patients. We conducted a cross-sectional study of 244 CAH patients [183 classic, 61 nonclassic (NC)] included in a Natural History Study at the National Institutes of Health. Outcome variables of interest were height sd score, obesity, hypertensive blood pressure (BP), insulin resistance, metabolic syndrome, bone mineral density, hirsutism (females), and testicular adrenal rest (TART). The majority had elevated or suppressed androgens, with varied treatment regimens. Mean adult height SD score was -1.0 ± 1.1 for classic vs. -0.4 ± 0.9 for NC patients (P = 0.015). Obesity was present in approximately one third of patients, across phenotypes. Elevated BP was more common in classic than NC patients (P ≤ 0.01); pediatric hypertensive BP was associated with suppressed plasma renin activity (P = 0.001). Insulin resistance was common in classic children (27%) and adults (38% classic, 20% NC); 18% of adults had metabolic syndrome. The majority (61%) had low vitamin D; 37% of adults had low bone mineral density. Hirsutism was common (32% classic; 59% NC women). TART was found in classic males (33% boys; 44% men). Poor hormonal control and adverse outcomes are common in CAH, necessitating new treatments. Routine monitoring of classic children should include measuring BP and plasma renin activity. Osteoporosis prophylaxis and TART screening should begin during childhood. A longitudinal study is under way.

Testicular adrenal rests in a patient with congenital adrenal hyperplasia: US and MRI features

We present ultrasonographic and magnetic resonance imaging findings of intratesticular adrenal rests in a 16-year-old patient with congenital adrenal hyperplasia. Scrotal ultrasonography showed bilateral well-delineated homogenous hypoechoic lesions located around the mediastinum testis, which were highly vascularized on power Doppler ultrasonography. Relative to normal testicular parenchyma the lesions were iso- or hyperintense on T1-weighted and hypointense on T2-weighted images. T2-weighted images also showed a target-like appearance caused by a more hypointense peripheral halo around the lesions. The lesions enhanced remarkably on post-contrast images. This case suggests that radiological evaluation of testes, even in the presence of normal physical examination findings, should be included in periodical follow-up of patients with congenital adrenal hyperplasia. Magnetic resonance (MR) imaging is useful in demonstrating the lesions, because the contrast resolution better than with ultrasonography.

Bilateral testicular adrenal rests after bilateral adrenalectomies in a cushingoid patient with von Hippel-Lindau disease

We report a case of bilateral testicular masses in a 25-year-old man with von Hippel-Lindau disease presenting with cushingoid symptoms. His medical history was significant for bilateral adrenalectomies secondary to pheochromocytomas, and he began steroid therapy at that time. After exhaustive endocrinologic, radiographic, and physical examinations, the testicular masses were postulated to be active adrenal rest tissue. Bilateral testicular venous sampling found elevated glucocorticoids that were responsive to dexamethasone suppression, which confirmed the testicular masses as testicular adrenal rests without the need for surgical intervention. Successful conservative management consisted of appropriate steroid manipulation and radiographic evaluation and resulted in the resolution of presenting symptoms, a decrease in size of the bilateral testicular masses, and testicular conservation in this young man.