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

Tanaka, Mikito; Enatsu, Noritoshi; Chiba, Koji; Fujisawa, Masato

doi:10.1002/rmb2.12068

Cited by 16 publications

(9 citation statements)

References 16 publications

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“…TARTs in some cases and may restore fertility (637)(638)(639). However, TARTs also occur in wellcontrolled patients and only a few studies have found a clear association between hormonal control, and TARTs (437,640,641).…”

Section: Suppression Of Acth Secretion By Increased Doses Of Glucocor...mentioning

confidence: 99%

Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

et al. 2021

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Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to chronic overstimulation of the adrenal cortex and accumulation of precursors proximal to the blocked enzymatic step. The most common form of CAH is caused by steroid 21- hydroxylase deficiency due to mutations in CYP21A2. Since the last publication summarizing CAH in Endocrine Reviews in 2000 there have been numerous new developments. These include more detailed understanding of steroidogenic pathways, refinements in neonatal screening, improved diagnostic measurements utilizing chromatography and mass spectrometry coupled with steroid profiling, and improved genotyping methods. Clinical trials of alternative medications and modes of delivery have been recently completed or are under way. Genetic and cell-based treatments are being explored. A large body of data concerning long-term outcomes in patients affected by CAH, including psychosexual well-being, has been enhanced by the establishment of disease registries. This review provides the reader with current insights in congenital adrenal hyperplasia with special attention to these new developments.

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Section: Suppression Of Acth Secretion By Increased Doses Of Glucocor...mentioning

confidence: 99%

Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

et al. 2021

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“…Besides,fertility loss is deemed as the complication in TARTs cases and always related mechanical obstruction and toxic effect of local adrenal steroids or metabolites derived from adrenal rest tumors[ 23 ].In spite of infertility,some effective treatments have been proposed like follicle-stimulating hormone(FSH)/LH induction or mitotane therapy[ 24 ].In most azoospermia or oligozoospermia patients affected by CAH,there are several reversible fertility TARTs cases[ 25 ],which could provide some guidance for 3β-2HSD population.…”

Section: Discussionmentioning

confidence: 99%

Case Report:clinical experience of bilateral giant pediatric Testicular adrenal rest tumors with 3 Beta-Hydroxysteroid Dehydrogenase-2 family history

Chen

Zhu

et al. 2021

BMC Pediatr

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Background We reported a patient with Testicular adrenal rest tumors(TARTs) caused by congenital adrenal hyperplasia(CAH). TARTs occur frequently in CAH population with 21-hydroxylase deficiency(21-OHD). There are few reports of TARTs with 3β-hydroxysteroid dehydrogenase deficiency-2 (3β-2HSD).Furthermore,gaint TARTs are rarely mentioned in reported cases involving affected siblings. Case presentation A 14-year-old male patient was admitted by congenital adrenal hyperplasia with progressively increasing bilateral testicular masses.The Patient and his elder brother had been performed mutational and chromosome analysis and biopsy. Hormonal and anthropometric measurements were performed during endocrine treatments. We successfully performed surgery and excised two 83mm×46mm×44mm and 74mm×49mm×31mm tumors. Our pathology and immunochemistry tests have proven TARTs in patient. At first, both siblings received regular doses of hydrocortisone and fludrocortisones and tumor size regressed. During the one-year irregular intake due to Covid-19 pandemic, endocrine treatment became insensitive and tumor size slowly increased. The gene analysis reported two novel mutations C.776 C>T and C.674 T>A. The C.776 C>T is from father and has been reported. The C.674 T>A inherited from mother and cannot found in gene library and may related to TARTs. Conclusions This case illustrates inadequate hormone therapy could cause tumor enlargement. It is essential to seek for ultrasound examination once suspected scrotal mass occurred.It is necessary to adjust endocrine medicine or adopt surgery in refractory gaint TARTs. And presence of tunica vaginalis cavity may indicate the severity of TARTs in surgery.

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“…However, TARTs have also been reported in men with adequate control of CAH and, conversely, some subjects with poorly controlled CAH never develop TARTs despite chronically elevated ACTH levels. The first choice of treatment is intensification of glucocorticoid treatment to suppress ACTH, based on a few cases in which this has led to reduction of the tumor size and improved testicular function (17)(18)(19)(20). Hydrocortisone, dexamethasone, and prednisone were all used as treatment for TARTs (21).…”

Section: Discussionmentioning

confidence: 99%

Effects of mitotane on testicular adrenal rest tumors in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective series of five patients

Bachelot

Lapoirie

Jérôme

et al. 2021

European Journal of Endocrinology

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We conducted a retrospective study on the long-term effect of mitotane treatment on testicular adrenal rest tumors (TARTs) in 5 adult patients with classic 21-hydroxylase deficiency,. After 60 months of mitotane treatment, a decrease of adrenal steroids was observed in 4 patients. Testicular ultrasonography showed complete disappearance of TART in 2 patients, stabilization in 2 patients and a halving of TART volume in the remaining patient. Sperm count improved notably in 2 patients who had normal baseline inhibin B levels and small inclusions, thus enabling cryopreservation of the subjects’ semen. Four years of follow-up of these two patients after the withdrawal of mitotane showed no recurrence of TART and persistent normal testicular function. In conclusion, mitotane should be used as a last resort in CAH patients in the cases of azoospermia associated with TARTs but normal inhibin B levels, as it can improve long-term endocrine and exocrine testicular function.

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

Cited by 16 publications

References 16 publications

Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

Case Report:clinical experience of bilateral giant pediatric Testicular adrenal rest tumors with 3 Beta-Hydroxysteroid Dehydrogenase-2 family history

Effects of mitotane on testicular adrenal rest tumors in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective series of five patients

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