Revista Romana de PEDIATRIE | Volumul LXI, Nr. 1, An 2012
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398

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Adrenal rest tumours in an adolescent with congenital adrenal hyperplasia – one year follow-up

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Congenital adrenal hyperplasia (CAH) is an inherited disorder resulting in impaired production of cortisol and aldosterone. Male patients with CAH may present testicular adrenal rest tumours (TART).

Aim. To discuss the embryological, clinical features and treatment options of TART in a patient with CAH.

Case report. We present a case of TART in a 16 years and 6 months adolescent with salt-wasting type of CAH. The patient had periodic clinical evaluations, complete metabolic and endocrinological profile which guided the treatment. He was diagnosed at 6 weeks, when he begun substitution treatment with hydrocortisone. He was a compliant patient until age 14 years and 8 months, when he started high school and moved from home. At the age of 15 years and 6 months the clinical exam showed bilateral testis enlargement. The scrotal ultrasound sowed bilateral non-homogeneous, extensive masses. Hormone profile revealed increased ACTH and 17-OHprogesterone levels. Treatment was made by changing the night dose of hydrocortisone into dexamethasone to prolong ACTH suppression. After one year of treatment the testicular masses underwent important volume decrease.

Conclusions. Puberty has a negative impact on treatment compliance, so increasing the risk for TART. They are not malignant, but can result in gonadal dysfunction and infertility. It is important to screen for these tumours in CAH patients, to inform, discuss and offer cryopreservation of semen as soon as possible.

Key words: congenital adrenal hyperplasia, testicular adrenal rest tumours, adolescent

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