Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Abstract

Objective: Testicular adrenal rest tumours (TART) are a well-known complication in adult male patients with congenital adrenal hyperplasia (CAH), with a reported prevalence of up to 94%. In adulthood, the tumours are associated with gonadal dysfunction most probably due to longstanding obstruction of the seminiferous tubules. The aim of our study was to determine the presence of TART and their influence on gonadal function in childhood. Design: Retrospective study. Patients and methods: Scrotal ultrasound was performed in 34 children with CAH due to 21-hydroxylase deficiency who were between 2 and 18 years old. FSH, LH, testosterone and inhibin B concentrations were measured in serum of 27 patients. Results: TART were detected by ultrasound in 8 out of 34 (24%) children. In two of them, bilateral tumours were found. All lesions were located in the rete testis. Seven patients had the salt-wasting type of CAH; one patient had the simple virilising type of CAH. Mean tumour size was 4.1 mm (range 2-8 mm). In none of the patients were the tumours palpable. Two children with TART were between 5 and 10 years old, the other six children were above 10 years old. In all children with TART, LH, FSH, testosterone and inhibin B levels were similar to the patients without TART. Conclusion: TART can be found in CAH children before the age of 10 years. The absence of gonadal dysfunction in our group of children suggests that gonadal dysfunction as frequently reported in adult CAH patients with TART develops after childhood.

Tumores testiculares bilaterais por hiperplasia congênita de restos adrenais

“…A intensificação da corticoterapia pode levar à redução do tumor pela supressão do ACTH, melhorando, assim, a função testicular. Contudo, deve-se salientar que a elevação das doses de glicocorticoides pode trazer graves efeitos colaterais, e alguns pacientes podem não tolerar seu uso (19)(20)(21). Além disso, é possível que esse tratamento só proporcione uma melhora temporária do efeito de massa, pois a redução da dose pode levar a um novo crescimento tumoral.…”

“…Contudo, nenhum desses estudos relatou informações sobre a função hipófise-gonadal antes ou depois da cirurgia. Em outro estudo, não foi observada melhora da disfunção gonadal nos pacientes com HRA de longa data com tal procedimento, sugerindo ser decorrente a dano irreversível do tecido testicular (19). Além disso, lesões adicionais pela própria cirurgia não podem ser excluídas.…”

A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency

“…Adrenal nodules have been identified more frequently in CAH patients and carriers than in the general population [15], however, adrenal imaging (generally CT scans) ought to be reserved for those patients who have an atypical clinical or biochemical course due to the high radiation burden of frequent screening (2 | ⊕OOO). Males with classic CAH should be periodically screened with ultrasound for testicular adrenal rests [16]. The latter can often be managed medically by more effectively suppressing the pituitary-adrenal axis.…”

Bilateral testicular adrenal rests in a boy with congenital adrenal hyperplasia

“…The incidence of testicular adrenal rests in CAH varies and increases with age. In childhood, the prevalence is about 25% and mostly not palpable on physical exam [1]. A hypoechoic testicular mass without architecture distortion in patients with CAH is characteristic of adrenal rests, particularly as it is bilateral and should not be misinterpreted as bilateral testicular tumors such as lymphomas [2].…”

“…A hypoechoic testicular mass without architecture distortion in patients with CAH is characteristic of adrenal rests, particularly as it is bilateral and should not be misinterpreted as bilateral testicular tumors such as lymphomas [2]. The mass is treated with steroids and rarely requires surgical enucleation when the adrenal rests do not respond to medical treatment [1,2].…”