[Bilateral testicular tumor in a young man with congenital 11ß-hydroxylase deficiency]. / 11-ß-hidroxiláz enzim defektusában szenvedo fiatal férfi kétoldali heredaganata.

Adrenal rest tumor presenting as palpable testicular mass has been well described in boys and adult males with congenital adrenal hyperplasia. It develops most commonly in patients with 21- hydroxylase deficiency, but the entity may also occur in rare forms of congenital adrenal hyperplasia, including 11ß-hydroxylase deficiency. Because the management of testicular adrenal rest tumors is substantially different from that applied in benign and malignant testicular tumors, an accurate differentiation between these entities is particularly important. Authors present the history of a young adult male with 11ß-hydroxylase deficiency who developed adrenal rest tumors presenting as palpable bilateral testicular masses during treatment with glucocorticoids, then testicular masses showed a rapid regression after an adequate glucocorticoid treatment. Considering lessons obtained from this case, authors review the pathomechanism, symptoms, as well as current diagnostic and treatment modalities of testicular adrenal rest tumors.

Total adrenal volume but not testicular adrenal rest tumor volume is associated with hormonal control in patients with 21-hydroxylase deficiency.

CONTEXT: Patients with 21-hydroxylase deficiency (21-OHD) have been shown to develop adrenal adenomas and, in males, testicular adrenal rest tumors (TARTs) at a high percentage. OBJECTIVE: The aim of this study was to evaluate the interrelation of adrenal masses and TARTs as well as factors stimulating tumor growth of orthotopic and ectopic adrenal tissue in 21-OHD. DESIGN: In a cross-sectional study, 26 adult male patients with classic 21-OHD (15 salt wasting, 11 simple virilizing; age range, 18-48 yr) were clinically assessed according to their hormonal control. Magnetic resonance imaging of the adrenals (26 of 26) and of the testes (18 of 26) was performed. Adrenal size and morphology was compared to 26 age-matched controls. RESULTS: Combined adrenal volume of 21-OHD patients was significantly higher (median, 9.3 ml; range, 3.2-124.5 ml) in comparison to controls (median, 7.4 ml; range, 5.5-10.8 ml; P = 0.005). Morphologically, adrenals were classified as normal without nodules in 27% of 21-OHD patients compared to 69% of controls. None of the controls, but 42% of 21-OHD patients had an overall adrenal volume higher than 11 ml. Ten of 18 patients had TARTs with a median volume of 3.3 ml (range, 0.4-21.6 ml). Total adrenal volume and tumor size but not TART volume correlated positively with current parameters of hormonal control (androstenedione, morning 17-OHP in serum, pregnanetriol in 24-h urine; P < 0.001 for each). Baseline ACTH was independent of adrenal and TART volume. There was no correlation of total adrenal or adrenal tumor size with TART volume. CONCLUSION: These data provide indirect evidence that different factors regulate the growth of orthotopic adrenal tissue and ectopic adrenal remnants in TARTs.

Testicular adrenal rest hyperplasia due to 21-hydroxylase deficiency: a case report.

Bilateral testicular tumors are a rare complication of congenital adrenal hyperplasia. It can be extremely difficult to distinguish histologically between Leydig cell tumors and adrenocortical rest hyperplasia, which may lead in some cases to unnecessary orchidectomy. A 7-yr-old boy was admitted because of precocious puberty and enlargement of testicles. Hormonal studies established the diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Testicular biopsy revealed interlacing strands, cords, and rests of cells resembling interstitial (Leydig) cells but with no Reinke crystalloids. Here we report a case of testicular adrenal rest hyperplasia in congenital adrenal hyperplasia and discuss the pathological and clinical features and origin of this rare lesion by using immunohistochemical evaluation.

Adrenal rest tumor of the broad ligament: case report with immunohistochemical study of steroidogenic enzymes.

An adrenal rest tumor of the broad ligament was studied in a 43-year-old woman. The tumor measuring 6 x 3 x 3 cm and appearing as golden-yellow on the cut surface was incidentally discovered during a total hysterectomy due to uterine leiomyoma. The encapsulated tumor was predominantly composed of pale and lipid-rich cells arranged in alveolar clusters or short blunt cords. Electron microscopic examination revealed mitochondria with tubulo-vesicular cristae and abundant lipid droplets. Adrenal 4-binding protein, a transcriptional factor of steroidogenesis, was present in almost all of the tumor cells, suggestive of steroidogenic features in the lesion. Immunoreactivity of steroidogenic enzymes involved in adrenocortical steroid production was detected in the tumor cells, suggesting that tumor cells had the potential to synthesize adrenocortical steroids. A relatively low Ki-67 labelling index (3.20 +/- 1.15 per 100 tumor cells) and an absence of necrosis and vascular and/or capsular invasion suggest benignity of the lesion.

Testicular enlargement in patients with 11-hydroxylase deficiency.

Testicular nodules or tumors have been well described in patients with congenital adrenal hyperplasia (CAH) and usually associated with 21-hydroxylase deficiency. The authors report on a 11-hydroxylase--deficient patient presenting bilateral testicular enlargement and review the literature. Testicular biopsy was not very helpful to make differential diagnosis between adrenal rest hyperplasia and Leydig cell tumor. The size of testes regressed after steroid replacement therapy, and this observation was suggestive for adrenal rest hyperplasia. These findings suggest that bilateral testicular enlargement in patients with CAH may occur after excessive adrenocorticotrophic hormone stimulation of cells differentiated from unknown origin. Orchiectomy is not required but bilateral testicular biopsy must be performed.

Steroidogenic enzyme activities, morphology, and receptor studies of a testicular adrenal rest in a patient with congenital adrenal hyperplasia.

Steroid-secreting tumors of the testis have generally been considered to be of Leydig cell origin. Testicular tumors in patients with congenital adrenal hyperplasia have been thought to be adrenal rests, but no conclusive evidence supporting the hypothesis has been presented. We report a morphological and biochemical analysis of a patient with 21-hydroxylase deficiency who developed bilateral nodular hyperplasia of steroid-secreting tissue within the testis, despite suppression therapy with both exogenous glucocorticoids and testosterone. The tissue was formed of confluent nodules of homogenous cells. Electron microscopy showed the cells to have abundant smooth endoplasmic reticulum, well developed Golgi apparatus, and mitochondria with predominantly tubular cristae, features characteristic of steroid-secreting cells of adrenocortical origin. Crystals of Reinke were not observed. Functional studies in vivo showed a marked response to ACTH infusion, with 17-hydroxyprogesterone rising from 56 to 13,500 ng/mL, cortisol from less than 2 to 19 micrograms/dL, and testosterone from 369 to 629 ng/dL, with an attendant increase in testicular size and pain over 48 h. Receptor studies in vitro revealed no gonadotropin receptors, but abundant angiotensin-II receptors. Enzyme activity analysis in vitro showed undetectable 21-hydroxylase activity and an enzyme profile consistent with adrenocortical cells rather than Leydig cells. Based on these morphological and biochemical findings, we conclude that the nodular steroidogenic tissue that replaced this patient's testes was of adrenal origin. The study documents for the first time the development of adrenocortical tumors from adrenal rest tissue within the testis.

Steroid and gonadotropin secretion in a patient with a 30-year history of virilization due to lipoid-cell ovarian tumor.

A 36-year-old woman with a 30-year history of undiagnosed virilizing lipoid-cell ovarian tumor is described. The tumor was localized by the NP-59 scan. Data of extensive investigations of steroid and gonadotropin secretion are provided. The preoperative dynamics of serum dehydroepiandrosterone sulfate and its decrease after the removal of the tumor suggested that dehydroepiandrosterone sulfate was being secreted by the ovarian tumor. Ovarian-peripheral venous gradients for plasma delta 5 and delta 4 steroids were correlated with the in vitro measurements of various steroidogenic enzymatic activities in the tumor tissue. The proposed metabolic pathway of the tumor is as follows: Pregnenolone----17-hydroxypregnenolone----dehydroepiandrosterone---- androstenedione----testosterone----estradiol. Low basal gonadotropin levels with no discernible pulsatility and no response to gonadotropin-releasing hormone were observed preoperatively, and a gradual normalization in both parameters was observed during the six months after removal of the tumor.