The testicular "tumor" of the adrenogenital syndrome. A report of six cases and review of the literature on testicular masses in patients with adrenocortical disorders.
ABSTRACT The clinical and pathological features of 40 cases in which testicular masses developed in patients with the adrenogenital syndrome are reviewed; this study was based on six personally observed cases and 34 other cases in the literature. The adrenal disorder was of the salt-losing form in two-thirds of the cases and the non-salt-losing form in the other third. Although the clinical diagnosis of the adrenogenital syndrome had been established prior to the discovery of the testicular lesion in most of the patients, in 18% of them the diagnosis was not made until or after the development of a testicular mass. Two-thirds of the masses were palpable (up to 10 cm); these cases were usually discovered in early adult life (average, 22.5 years). The remaining one-third were small (under 2 cm) and were usually found in children either at autopsy or on testicular biopsy. Eighty-three percent of the masses were bilateral. Eighty-six percent of the small lesions were located in the hilus. The larger lesions involved the testicular parenchyma in all but one case. They formed well-demarcated but unencapsulated brown-green masses, typically separated into lobules by prominent bands of fibrous tissue. Microscopical examination revealed sheets, nests, and (rarely) cords of cells with abundant eosinophilic cytoplasm separated by bands of fibrous tissue. Lipochrome pigment was identified in the cytoplasm in many cases, but crystals of Reinke were uniformly absent. The major pathological differential diagnosis is Leydig cell tumor; the associated clinical and laboratory features--including the high frequency of bilaterality and a decrease in the size of the tumor with corticosteroid therapy--are diagnostic of a testicular "tumor" of the adrenogenital syndrome. Although a variety of origins have been suggested for these lesions, in our opinion an origin from hilar pluripotential cells, which proliferate as a result of the elevated level of adrenocorticotropic hormone, is most likely.
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ABSTRACT: Background. Our knowledge on long-term outcome in CAH remains incomplete. Methods. In a prospective study (33 CAH patients, 33 age-matched controls), reproductive outcomes, self-rating of genital appearance and function, and sexuality were correlated to degree of initial virilisation, genotype, and surgery. Results. Patients had larger median clitoral lengths (10.0 mm [range 2–30] versus 3.5 [2–8], P < .001), shorter vaginal length (121 mm [100–155] versus 128 [112–153], P = .12), lower uterine volumes (29.1 ml [7.5–56.7] versus 47.4 [15.9–177.5], P = .009), and higher ovarian volumes (4.4 ml [1.3–10.8] versus 2.8 [0.6–10.8], P = .09) than controls. Satisfaction with genital appearance was lower and negatively correlated to degree of initial virilisation (rs = ≤−0.39, P ≤ .05). More patients had never had intercourse (P = .001), and age at 1st intercourse was higher (18 yrs versus 16 yrs, P = .02). Conclusion. Despite overall acceptable cosmetic results, reproductive outcomes were suboptimal, supporting that multidisciplinary teams should be involved in adult follow up of CAH patients.International Journal of Pediatric Endocrinology 10/2010; 2010:784297. DOI:10.1155/2010/784297
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ABSTRACT: In adult patients with congenital adrenal hyperplasia (CAH), the presence of testicular adrenal rest tumours (TART) is an important complication leading to gonadal dysfunction and infertility. These tumours can be already found in childhood and puberty. In this paper, we review the embryological, histological, biochemical, and clinical features of TART and discuss treatment options.International Journal of Pediatric Endocrinology 02/2009; 2009(1):624823. DOI:10.1155/2009/624823
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ABSTRACT: Steroidogenic cells of the adrenal and gonad are thought to be derived from a common primordium that divides into separate tissues during embryogenesis. In this paper, we show that cells with mixed adrenal and Leydig cell properties are found dispersed in the insterstitium of the embryonic and adult mouse testis. They express the adrenal markers Cyp11b1 and Cyp21 and respond to ACTH. Consistent with these properties, we show that the embryonic testis produces the adrenal steroid corticosterone. These cells also express Cyp17 and respond to hCG stimulation but do not express the Leydig specific marker Insl3 showing that they are a population of steroidogenic cells distinct from Leydig cells. Based on their properties, we refer to these cells as adrenal-like cells of the testis and propose that they are the mouse equivalent of the precursors of human adrenal rests, tumors found primarily in male patients with congenital adrenal hyperplasia. Organ culture studies show that ACTH-responsive cells are present at the gonad/mesonephros border and seem to migrate into the XY but not the XX gonad during development. Consistent with this, using transgenic Cyp11a1 reporter mice, we definitively show that steroidogenic cells can migrate from the mesonephros into the XY gonad. We also show that the region between the mesonephros and the gonad harbors steroidogenic cell precursors that are repressed by the presence of the mesonephros. We propose that this region is the source of the adrenal-like cells that migrate into the testis as it develops and are activated when Leydig cells differentiate. These studies reveal the complex nature of steroidogenic cell differentiation during urogenital development.Developmental Biology 12/2006; 299(1):250-6. DOI:10.1016/j.ydbio.2006.07.030 · 3.64 Impact Factor