1/8. Virilising adrenocortical tumours in children.Adrenocortical tumours (ACT) are a rare but important cause of virilisation in infancy and childhood. Four cases of virilising ACT are presented. Two girls (age 0.9 years and 3.9 years) and two boys (age 6.2 years and 6.4 years) had symptoms and signs of virilisation before the age of 6 years. Diagnosis of a virilising adrenal tumour was confirmed by laboratory tests, diagnostic imaging and histology. However, one female patient was misdiagnosed and treated for 3 months as atypical congenital adrenal hyperplasia. ultrasonography of the adrenal region could not visualise the tumour in three out of four cases. The most sensitive method of diagnostic imaging was MRI. In all cases, treatment consisted of complete surgical resection of the adrenal tumour by open abdominal surgery. immunohistochemistry was performed in all patients and in two patients there was an overexpression of p53, indicating p53 mutation and in three cases the ki67 proliferation index was greater than 5%. The classification of ACT in childhood is extremely difficult. histology scores adapted from adrenal tumours in adults and molecular markers are under investigation, but there is still not enough clinical experience since ACT are so rare. CONCLUSION: Long-term follow-up is mandatory not only because of the uncertainty in classification of adrenocortical tumours, but also for observation of growth and pubertal development.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/8. Congenital adrenal hyperplasia - how to improve the transition from adolescence to adult life.Congenital adrenal hyperplasia (CAH) is caused by a defect in the biosynthesis of cortisol that results in maximal activity of the hypothalamic-pituitary adrenal axis with hyperplasia of the adrenals and hyperandrogenism due to the accumulation of androgen precursors. In the salt-wasting subtype of the disorder, which accounts for appr. 75 % of patients with classical CAH, patients are unable to synthesise sufficient amounts of aldosterone and are prone to life-threatening salt-losing crises, whereas the simple virilising form is predominantly characterized by clitoris hypertrophy and posterior labial fusion. In addition, a non-classical variant can be discerned which in most cases is diagnosed at the time of puberty or early adolescence when hirsutism and menstrual irregularities may occur. The vast majority of CAH patients have 21-hydroxylase deficiency (90 - 95 %). Less common forms, such as 11beta-hydroxylase deficiency, will not be discussed in this review. Unfortunately, a considerable number of CAH patients is lost to regular and competent follow-up once they move out of paediatric care. This is most probably the result of insufficient co-operation between paediatric and adult endocrinologists at the time of transition from adolescence to adulthood. Furthermore, there is a lack of clinical guidance regarding psychosexual development in these patients. In this overview we will focus on special aspects of CAH treatment in adolescence and adulthood, and report on our 10-year experience with a transfer system for endocrine patients from paediatric to internal medical care, known as the "Kieler Modell". For practical purposes, we here provide charts for follow-up of CAH patients that can be adapted for use in any endocrine outpatient clinic.- - - - - - - - - - ranking = 5keywords = life (Clic here for more details about this article) |
3/8. 46,XX patients with congenital adrenal hyperplasia: initial assignment as male, reassigned female.Six 46,XX patients with congenital adrenal hyperplasia (CAH) presented with genital ambiguity, five so severe that initial gender assignment was male. Once diagnosis was realized, parents were involved in evaluation and chose sex re-assignment as female. To date, these girls and their parents all indicate satisfaction with their decision for a female sex of rearing. The girls have a female gender identity with behavior characteristics known for females with CAH. Thus, while outcome is satisfactory, it is realized that for most, expression of sexual orientation and adult life adjustments have not yet occurred.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
4/8. Ovarian fibroma with Leydig cell hyperplasia of the adjacent stroma: a light and electron microscopic study.A virilizing left ovarian tumor removed from a 58-year-old woman was studied by light and electron microscopy. Histologically, the tumor was an ovarian fibroma around which leydig cells, but no sertoli cells, proliferated at a distance from the hilus. Although the fibroma itself did not contain leydig cells, several leydig cells were observed intermingled with ovarian stromal cells in the cortical tissue compressed by the fibroma. Ultrastructurally, in addition to mature leydig cells with typical steroid-producing--cell features, immature cells with less-developed smooth endoplasmic reticulum and elementary tubular inclusions were identified. These light and electron microscopic findings suggest that the leydig cells may have differentiated from ovarian stromal cells surrounding the fibroma. If so, this case should be distinguished from neoplastic disorders such as hilar cell tumors or stromal-Leydig cell tumors and be classified in the category of ovarian tumors with functioning stroma containing leydig cells.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
5/8. Fibromatosis and massive edema of the ovary, possibly related entities: a report of 14 cases of fibromatosis and 11 cases of massive edema.Twenty-five cases of ovarian enlargement secondary to massive edema, to a hitherto undescribed lesion that we have designated fibromatosis, or to both processes were reviewed to explore the possibility of a relation between them. The patients ranged in age from 13 to 39 years. The 14 patients with pure or predominant fibromatosis usually presented because of menstrual abnormalities; two had evidence of androgen excess and three had abdominal pain. At laparotomy two involved ovaries were observed to have twisted on their pedicles. There was definite bilateral ovarian involvement in two cases and probable bilateral involvement in two others. The excised specimens measured up to 12 cm in diameter and typically had firm, white sectioned surfaces. Microscopic examination showed a proliferation of spindle cells usually separated by dense collagen, which surrounded normal follicular structures. lutein cells were present in the fibromatous areas in one patient, who was masculinized, and in the adjacent ovarian stroma in another patient, who was hirsute; a proliferation of cells of sex cord type was observed in the fibromatous areas in three cases. Six of the specimens contained focal areas of edema similar in appearance to that seen in cases of massive edema. The features of the 11 cases of massive edema were, in general, similar to those of the 40 examples of this entity reported in the literature. Six of the 11 patients had menstrual abnormalities and/or evidence of androgen excess, but most of them presented because of abdominal pain. At operation an involved ovary was observed to have undergone torsion in five of the cases; bilateral ovarian enlargement due to massive edema was present in two cases. The excised specimens, which measured up to 15 cm in diameter, typically had a watery appearance on sectioning. Microscopic examination showed edematous stroma surrounding residual normal ovarian structures. lutein cells were identified in the edematous stroma in four cases and in the adjacent ovarian stroma in three of these cases. One of these patients was masculinized and another was hirsute. Small foci of fibromatosis similar to that seen in cases of pure fibromatosis were present in eight cases. The similar age range and clinical manifestations of these two processes and the overlap in their histologic features suggest that they are closely related and may reflect differing morphologic expressions of the same underlying disorder. Some of the cases of massive edema, however, may result from the development of stromal edema in ovaries involved by hyperthecosis.- - - - - - - - - - ranking = 2keywords = life (Clic here for more details about this article) |
6/8. Virilization without adrenal hyperplasia in 21-hydroxylase deficiency during fetal life.The characteristic excess production of androgens in the cortisol 21-hydroxylase defect is generally considered to be secondary to ACTH stimulation of alternate pathways. Whenever a morphological examination of the adrenals has been possible in this disorder, adrenocortical hyperplasia was a constant finding. The availability of methods for the prenatal diagnosis of the 21-hydroxylase defect has made it possible to examine some of the manifestations of this disorder during fetal life. We studied a severely virilized 20-week-old aborted female fetus with the 21-hydroxylase defect whose adrenals were neither grossly enlarged nor microscopically hyperplastic. In a pregnancy at risk for congenital adrenal hyperplasia due to a 21-hydroxylase deficiency, amniocentesis was performed in the 18th week of gestation. The 21-hydroxylase defect was established by HLA typing and highly elevated levels of 17-hydroxyprogesterone, testosterone, and androstendione in amniotic fluid. After counselling, the parents, who already had a girl with the salt-wasting form of 21-hydroxylase deficiency, wished termination of the pregnancy. The aborted 20-week-old fetus was within the normal range for gestational age in weight and height. The external genitalia were ambiguous and extremely virilized, with an enlarged clitoris and fused labioscrotal folds. A urogenital sinus opened at the base of the clitoris. The internal organs were female, with a normal uterus and ovaries. Both adrenals were normal in size and weight for their gestational age. Histological examination of the adrenals revealed no abnormalities, and no hyperplasia was detectable. Thus, the adrenals in the 21-hydroxylase defect during fetal life secrete excessive amounts of androgens and cause virilization in the absence of adrenocortical hyperplasia.- - - - - - - - - - ranking = 6keywords = life (Clic here for more details about this article) |
7/8. Ovarian leiomyoma with hilus cell hyperplasia that caused virilization.A 68-year-old woman had noted gradual virilization and depression for 3 years. Examination revealed a 10-cm right pelvic mass. plasma testosterone was substantially elevated (1,082 ng/dl), but urinary ketosteroid and ketogenic steroid excretion was normal. laparotomy revealed a 10-cm mass that replaced the right ovary and weighed 210 g. Histologic analysis revealed a leiomyoma and proliferation of hilus cells in the periphery of the mass. The plasma testosterone decreased postoperatively to 45 ng/dl. We believe that this is the first report of an ovarian leiomyoma associated with hilus cell hyperplasia that caused virilization.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
8/8. Malignant stromal tumour of the ovary with virilizing effects in an XXX female with streak ovaries. Clinical and pathological studies.In gonadal dysgenesis, the presence of the Y sex chromosome appears to have a strong influence on the development of germ cell tumours. The risk of malignancy associated with other sex chromosomal abnormalities is much lower. In the present report, the clinical manifestations--including primary amenorrhoea, tall stature, infertility and poor development of the genitalia and breasts--associated with a predominantly 47, XXX karyotype are described. Malignant change of the streak ovary to an unusual gonadal stromal tumour with lipid-containing cells occurred at a late stage in her life, and this was associated with progressive virilization and production of androgenic and oestrogenic steroids. In view of the risk of malignancy as well as the abnormal endocrine effects, especially in the presence of a y chromosome, there is a place for the prophylactic removal of these dysgenetic gonads.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |