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1.
Chinese Journal of Endocrinology and Metabolism ; (12): 453-455, 2023.
Artículo en Chino | WPRIM | ID: wpr-994345

RESUMEN

Congenital adrenal hyperplasia(CAH) is a group of autosomal recessive disorders caused by deficiency of specific enzymes in the adrenocortical hormone synthesis pathway, resulting in impaired corticosteroid synthesis. 21-hydroxylase deficiency is the most common type of CAH, and the disorder can lead to impaired fertility in patients. Most current studies have focused on fertility problems in female CAH patients. The most common causes of impaired fertility in men with 21-OHD include testicular adrenal rest tumors(TART), low gonadotropin secretion, and inappropriate glucocorticoid therapy. This article reviews the causes of impaired fertility and its treatment in male patients with 21-OHD, with the aim of providing guidance for improving the fertility of male patients with 21-OHD.

2.
Chinese Journal of Endocrinology and Metabolism ; (12): 607-610, 2016.
Artículo en Chino | WPRIM | ID: wpr-496149

RESUMEN

[Summary] All patients with cholesterol side-chain cleavage enzyme ( P450scc) deficiency that have been reported presented with early adrenal failure. Here we described a 35-year-old male presented with infertility as the only initial presenting complaint. He had received two separate surgeries to remove bilateral testicular masses. We reevaluated the resected tumors and found testicular adrenal rest tumor ( TART) pathology in the resected tumor. We profiled steroid hormones and found significantly elevated ACTH. CT scan revealed bilateral adrenal hyperplasia. Mutation screening identified compound heterozygous mutations (R353W and P432L) in the P450scc encoding gene (CYP11A1). The patient was finally diagnosed as congenital adrenal hyperplasia.

3.
Chinese Journal of Endocrinology and Metabolism ; (12): 648-652, 2013.
Artículo en Chino | WPRIM | ID: wpr-442862

RESUMEN

Objective To summarize the prevalence,risk factors,and characteristics of testicular adrenal rest tumors(TART) in children and adolescent males with congenital adrenal hyperplasia(CAH) due to 21-hydroxylase deficiency (21-OHD).Methods During past 4 years,there were 44 males with CAH caused by 21-OHD undergone testicular ultrasound scan in our clinic.We have diagnosed 13 cases of TART and summarized the characterizations.Results The prevalence of TART in our group was 29.5% with 11 cases of salt wasters and 2 cases of simple virilizers.The median age of TART diagnosis was 10.2 years.The median follow-up period of TART was 3.0 years.History of poor control of CAH was found in every case before diagnosis of TART.The doses of hydrocortisone were increased in 5 cases of TART who refused operations or had small TART,resulting in tumor regression in two of those five patients.Testis-sparing surgeries were performed in 8 patients with symptoms relieved; 7 of those eight patients presented elevated FSH and LH after operations.Conclusions Prevalence of TART in our CAH children and adolescent males was 29.5%.Testicular ultrasound was useful in TART screening.TART should be considered when a CAH patient with poor control,especially in post-pubertal one.Delayed management of TART may lead to impaired testicular function.Increased doses of glucocorticoid may be effective in TART of small size.Testis-sparing surgery should be also considered if necessary.

4.
Rev. chil. endocrinol. diabetes ; 2(1): 24-28, ene. 2009. tab, ilus
Artículo en Español | LILACS | ID: lil-612525

RESUMEN

Testicular Adrenal Rest Tumors (TART) may play a role in fertility disturbances of patients with Classical Congenital Adrenal Hyperplasia (CAH). We report a 17 years old male with classical CAH, diagnosed in the newborn period due to a salt wasting crisis with dehydration and severe hyponatremia. He was treated with cortisol and fludrocortisone with a low adherence to therapy. He had a precocious puberty and accelerated bone age, and was treated with a luteinizing hormone releasing hormone (LHRH) analog during two years. At the age of 14 years, bilateral testicular masses were detected during the physical examination. Testicular color Doppler ultrasound showed the presence of TART. A new ultrasound at 17 years of age showed the persistence of adrenal rests and an abnormal testicular growth.


Asunto(s)
Humanos , Masculino , Adolescente , Hiperplasia Suprarrenal Congénita/complicaciones , Neoplasias Testiculares/etiología , Neoplasias Testiculares , Tumor de Resto Suprarrenal/etiología , Tumor de Resto Suprarrenal , Evolución Clínica , Infertilidad Masculina/etiología , Testículo/patología , Testículo , Ultrasonografía Doppler en Color
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