Testicular adrenal rest tumor in infertile man with congenital adrenal hyperplasia: case report and literature review

Abstract

CONTEXT: Synthesis of cortisol and aldosterone is impaired in patients with congenital adrenal hyperplasia (CAH) because of 21-hydroxylase deficiency. Men with CAH have low fertility rates compared with the normal population, and this is related to testicular adrenal rest tumors. Findings of azoospermia in combination with a testicular tumor on ultrasound are likely to have a mechanical cause, especially when in the testicular mediastinum. The preferred treatment method consists of intensive corticoid therapy. However, when the tumor is unresponsive to steroid therapy, surgical treatment should be considered. CASE REPORT: We present the case of a male patient with CAH due to 21-hydroxylase deficiency who presented a testicular tumor and azoospermia. Treatment with low daily corticoid doses had previously been started by an endocrinologist, but after 12 months, no significant change in sperm count was found. Although the adrenocorticotrophic hormone and 17-hydroxyprogesterone levels returned to normal values, the follicle-stimulating hormone (FSH), luteinizing hormone and testosterone levels remained unchanged. Ultrasound examination confirmed that the testicles were small and heterogenous bilaterally, and revealed a mosaic area at the projection of the testis network bilaterally. Magnetic resonance imaging confirmed the finding. Testicular biopsy revealed the presence of preserved spermatogenesis and spermiogenesis in 20% of the seminiferous tubules in the right testicle. The patient underwent testis-sparing tumor resection. After 12 months of follow-up, there was no tumor recurrence but the patient still presented azoospermia and joined an intracytoplasmic sperm injection program.resUMo CONTEXTO: Pacientes com hiperplasia adrenal congênita (HAC) por deficiência da 21-hidroxilase podem ter a síntese de cortisol e de aldosterona prejudicada. Homens com HAC têm baixas taxas de fertilidade em comparação com a população normal, e isso está relacionado a tumores testiculares de remanescente adrenal. A associação de azoospermia e tumor testicular sugere uma causa mecânica, principalmente quando o tumor é encontrado no mediastino testicular. O método preferencial de tratamento consiste na corticoterapia intensa. No entanto, quando o tumor não é responsivo à terapia com esteroides, o tratamento cirúrgico deve ser considerado. RELATO DE CASO: Apresentamos o caso de um paciente do sexo masculino com HAC por deficiência da 21-hidroxilase, portador de tumor testicular e azoospermia. Em consulta prévia com endocrinologista, o paciente começou tratamento com baixas doses diárias de corticoide, porém, após 12 meses de tratamento, não houve mudança significativa no espermograma. Embora os níveis de hormônio adrenocortitrófico e 17-hidroxiprogesterona tenham se normalizado, os níveis séricos de hormônio folículo-estimulante, hormônio luteinizante e testosterona não se alteraram. Exame ultrassonográfico confirmou testículos bilateralmente diminuídos e heterogêneos, além de área em mosaico na projeção da rede testis bilate...

Restoration of fertility by gonadotropin replacement in a man with hypogonadotropic azoospermia and testicular adrenal rest tumors due to untreated simple virilizing congenital adrenal hyperplasia

“…In cases where patients remain azoospermic, a combination of testicular sperm extraction and ICSI can constitute a viable treatment option (36).…”

Two cases of reversible male infertility due to congenital adrenal hyperplasia combined with testicular adrenal rest tumor

“…Adrenals and gonads derive from a common adrenogonadal primordium during development. It is believed that remnants of the adrenogonadal primordium can persist and proliferate to TARTs, with the preservation of adrenal‐like, hormone‐producing properties . The reported prevalence of TARTs in patients with CAH ranges from 27% to 47% …”

“…The third mechanism is due to the disturbance of the local hormonal status. Thus, TARTs can inhibit spermatogenesis by local steroid production, resulting in impaired function of testicular androgen …”

“…Congenital adrenal hyperplasia (CAH) is one of the most commonly found autosomal recessive diseases (~1:16 000 births) . The defective conversion of 17‐hydroxyprogesterone (17‐OHP) to 11‐deoxycortisol, which is mediated by 21‐hydroxylase, accounts for >90% of the cases of CAH, (Figure ), resulting in increased adrenocorticotropic hormone (ACTH) production and an associated hyperplasia of the adrenal glands, with the subsequent overproduction of adrenal androgens . Recently, CAH has been included in newborn screening in many countries.…”

Sonographic features of the testicular adrenal rests tumors in patients with congenital adrenal hyperplasia: a single-center experience and literature review

“…In the literature since 1990, 23 articles were found to have described the sonographic features of TART [2,7,11,[16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][34]. One hundred twenty-three patients with a total of 223 testicular lesions were collected.…”