1/22. Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, especially those patients with the salt-losing form, have decreased fertility rates. pregnancy experience in this population is limited. We report the pregnancy outcomes and serial measurements of maternal serum steroid levels in four women with classic 21-hydroxylase deficiency, three of whom were female pseudohermaphrodites with the salt-losing form. These glucocorticoid-treated women gave birth to four healthy female newborns with normal female external genitalia, none of whom were affected with 21-hydroxylase deficiency. In three women, circulating androgen levels increased during gestation, but remained within the normal range for pregnancy during glucocorticoid therapy. In the fourth patient, androgen levels were strikingly elevated during gestation despite increasing the dose of oral prednisone from 5 to 15 mg/day (two divided doses). Notwithstanding the high maternal serum concentration of androgens, however, placental aromatase activity was sufficient to prevent masculinization of the external genitalia of the female fetus and quite likely the fetal brain, consistent with the idea that placental aromatization of androgens to estrogens is the principal mechanism that protects the female fetus from the masculinizing effects of maternal hyperandrogenism. These four patients highlight key issues in the management of pregnancy in women with 21-hydroxylase deficiency, particularly the use of endocrine monitoring to assess adrenal androgen suppression in the mother, especially when the fetus is female. Recommendations for the management of pregnancy and delivery in these patients are discussed.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
2/22. Diffuse stromal Leydig cell hyperplasia: a unique cause of postmenopausal hyperandrogenism and virilization.A 60-year-old woman presented with diffuse scalp alopecia, hirsutism, and clitorimegaly, and the mean serum testosterone levels were greater than 200 ng/dL. Findings on computed tomography of both adrenal glands were normal. After bilateral oophorectomy, a unique histological picture consisting of diffuse stromal Leydig cell hyperplasia was found. Reinke crystals were present, but neither hilus cell hyperplasia nor stromal hyperthecosis was noted. Sequencing of the 11 exons of the gene for the luteinizing hormone receptor revealed no abnormality. Relevant data suggest that treatment of the postmenopausal woman with hyperandrogenism and virilization is bilateral laparoscopic oophorectomy if she has no pronounced ovarian enlargement or adrenal tumor on imaging. In this setting, an intensive endocrine evaluation or a search for metastatic disease seems to be unnecessary.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
3/22. Ovarian yolk sac tumor with virilization during pregnancy: immunohistochemical demonstration of leydig cells as functioning stroma.A case is reported of yolk sac tumor occurring in the left ovary and complicated by pregnancy. The 22-year-old patient presented at 28 weeks gestation with virilization and elevated serum levels of testosterone and alpha-fetoprotein. The tumor showed the typical features of yolk sac tumor with a mixture of islands of leydig cells. The accumulations of leydig cells were well demarcated from the cellular components of the yolk sac tumor and were distributed throughout the tumor, although with predominant localization at the periphery. By immunohistochemistry the leydig cells were intensely positive for vimentin and negative for cytokeratins, allowing clear distinction from the cell components of the yolk sac tumor, which were positive for cytokeratins and negative for vimentin. testosterone was also identified in the cytoplasm of the leydig cells. After tumor resection the testosterone and alpha-fetoprotein levels declined simultaneously; this, together with the immunohistochemical demonstration of testosterone, indicates that the leydig cells were responsible for the endocrine manifestations. Furthermore, antibodies against inhibin alpha-subunit and calretinin could be used to detect the leydig cells. The present case, a combination of yolk sac tumor and leydig cells acting as a functioning stroma and causing virilization during pregnancy, is very rare.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
4/22. An ovarian Sertoli-Leydig cell tumour in a 40 year old Ethiopian woman: case report.Sertoli-Leydig cell tumors of the ovary are uncommon ovarian tumors. They belong to the ovarian stromal neoplasm. The most striking mode of presentation of these tumours is virilization due to androgen secretion. But approximately 50% of patients with Sertoli-Leydig cell tumors have no endocrine manifestations and usually complain of abdominal pain or swelling. Occasional tumors have been associated with various estrogen syndromes. A forty year old Ethiopian lady with well differentiated sertoli-leydig cell tumor of the left ovary presenting with features of virilization is described with clinicopathological correlation and literature review.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
5/22. An unusual steroid-producing ovarian tumour: case report.The rapid onset of virilization in a post-menopausal woman is usually the result of androgen secretion from a tumour of adrenal or ovarian origin. Androgen secreting neoplasms of the ovary are rare and usually show autonomous secretion. Rarely, these may be driven by the high levels of gonadotrophins seen in the post-menopausal state. We describe the case of a 67-year-old woman with high serum testosterone and estradiol in association with the high gonadotrophin levels usually associated with the post-menopausal state. All hormonal parameters showed a significant suppression over 12 h with administration of the GnRH antagonist, cetrorelix. This observation implies that excess hormone synthesis was of ovarian origin and was gonadotrophin driven. Localization of the tumour was not possible by conventional ultrasound or computerized tomography scanning, but was achieved by venous sampling. Complete cure was achieved by total abdominal hysterectomy and bilateral salpingo-oophorectomy, with restoration of the endocrine profile to that expected for a post-menopausal woman. Rapidly acting GnRH antagonists, such as cetrorelix, offer a safe and useful diagnostic and therapeutic option in the management of ovarian steroid-secreting tumours, which show gonadotrophin dependency.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
6/22. Androgen, estrogen, and progesterone by a lipid cell tumor of theovary.In a 64-year-old woman with a virilizing lipid-cell tumor of the left ovary, serum progesterons, androgens, estrogens, and cortisol levels in the peripheral and ovarian veins were measured. Although virilization was the only symptom of hormone production by the tumor in this patient, endocrine studies showed that several steroids were secreted by this neoplasm. Of the steroids measured, androstenedione was the principal secretory product. pregnenolone, 17-hydroxypregnenolone, 17-hydroxyprogesterone, dehydroepiandrosterone, and testosterone were also secreted, but in quantities which were one third to one sixth the amount of androstenedione. The tumor's pattern of hormone secretion was similar to patterns of steroid production by ovarian stromal cells found in previously reported in vitro studies. This case and a review of the literature demonstrate that androstenedione appears to be the predominant secretory product of lipid cell tumors, whereas testosterone is the predominant secretory product of hilus cell tumors.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
7/22. 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 = 2keywords = endocrine (Clic here for more details about this article) |
8/22. Androluteoma syndrome of pregnancy.The clinical course of a 26-year-old primigravid woman with a virilizing luteoma of pregnancy is described. It was demonstrated by endocrine studies that the tumor secreted an excessive amount of testosterone. After removal of the luteoma in week 32 of pregnancy, the virilizing symptoms of the mother completely regressed. A normal male infant was delivered in week 39. From 100 luteomas of pregnancy described in the literature, 26 cases have been cited to elicit endocrine virilizing activity. An evaluative synopsis indicates that including the case described in this paper only 13 can be regarded as a clinical, morphologic, and functional entity. This entity should be differentiated from the inhomogeneous group of luteomas as the "androluteoma syndrome of pregnancy." It is characterized by the following major criteria: virilization, beginning with the second trimester of pregnancy; histologic criteria of a luteoma of pregnancy; production of testosterone, leading to excessive plasma levels (exceeding the concentration of androstenedione), and masculinization of female fetuses.- - - - - - - - - - ranking = 2keywords = endocrine (Clic here for more details about this article) |
9/22. Approach to the mechanism of androgen overproduction in a case of Krukenbery tumor responsible for virilization during pregnancy.Virilization may occur during pregnancy as the result of an ovarian krukenberg tumor. mechanism of the androgen overproduction in this exceptional condition is still poorly understood. A new case is reported in which only in the postpartum clinical, endocrine, and endoscopic studies led to the diagnosis of an ovarian krukenberg tumor secondary to a gastric carcinoma. In the mother, basal hormonal studies were done 1 and 4 weeks after delivery, then after gastric and ovarian surgery. Three months after delivery, ovarian steroid response to hCG (priming dose, 5000 IU; then 1500 IU every other day for 12 days) and a study of progesterone (P) metabolism at a steady state after a constant infusion of [3H]P and cold P (92 micrograms/min leads to blood production rate (BPR) of 152 mg/day designed to reproduce the BPR of P usually seen in pregnancy) were successively performed. hormones were measured by specific RIAs after chromatographical purification. Basal hormonal levels were normal in the child. In the mother, on the 5th day postpartum, mean hormone levels (in nanograms per dl) were: testosterone (T), 4181; androstenedione (delta 4), 8876; 17 alpha-hydroxyprogesterone (17-OHP), 9746; P 1075; estrone (E1), 195; and estradiol (E2), 151. One month later, levels were normal for the follicular phase; T, 40; delta 4, 146; P, 52; E2, 9; and E2, 4.5. At both times, dehydroepiandrosterone was normal (703-750). Hormone levels increased progressively during hCG stimulation but their time course was different between hormones. At the end of the test, T. 144; delta 4, 746;' 17-OHP, 789; P, 723; E1, 37; and E2, 20. The MCR of P was decreased, 1450 liters/day (normal, 2020). Conversion ratios between products and precursor during constant infusion were normal. From these data, obtained in four different conditions (postpartum period, hCG stimulation, progesterone infusion, and after oophorectomy), the following can be concluded: adrenal production of dehydroepiandrosterone was normal; the ovarian overproduction of androgens likely resulted from the excessive reductive metabolism of both placental and ovarian P along the delta 4 steroid biosynthetic pathway by an hypertrophic stromal compartment; and HCG stimulation seems to be the necessary stimulus for this condition. The enhancement by T on its own peripheral production is also discussed.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
10/22. Large benign virilizing adrenal adenoma.The young woman described sought evaluation for infertility and was found to have virilization due to a large left adrenal tumor. Further endocrine studies confirmed a syndrome of pure virilization with normal glucocorticoid function. Resection of this apparently benign tumor resulted in regression of virilization, as well as pregnancy. Pure virilization is an unusual manifestation of benign adrenocortical tumors, and adrenal tumors of this size are most frequently malignant.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
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