1/114. 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 = androgen (Clic here for more details about this article) |
2/114. Hilus cell tumour of the ovary in a virilized, premenopausal woman. Case report and review of hyperandrogenism of ovarian origin.A 35 year-old woman presented with virilization and was found to have elevated serum testosterone levels. Investigation revealed an 11 mm hilus cell tumour in the left ovary. After unilateral oophorectomy, serum testosterone levels rapidly returned to normal levels. The various ovarian tumours and conditions causing virilization are described and a clinical approach to the investigation of virilization is outlined.- - - - - - - - - - ranking = 0.66666666666667keywords = androgen (Clic here for more details about this article) |
3/114. hypertension and virilization caused by a unique desoxycorticosterone- and androgen-secreting adrenal adenoma.We describe a rare androgen and desoxycorticosterone (DOC)-secreting adrenal tumor in a non-Cushingoid 14 year-old Haitian girl with secondary amenorrhea, hypertension and virilization. Her steroid pattern simulated an 11 beta-hydroxylation defect with notable elevation of adrenal androgens, 11-desoxycortisol (S), DOC, 17 alpha-hydroxyprogesterone and pregnenelone. Exogenous ACTH stimulated steroidogenesis. A CAT scan unfortunately failed to delineate an adrenal mass. dexamethasone (DEX) was administered, therefore, which partially suppressed androgen levels, reduced DOC and S by 80% and 82% respectively, and normalized blood pressure. Nevertheless, the response to glucocorticoid was incomplete and an MRI was obtained, which revealed a right adrenal tumor. Post surgery, the patient promptly resumed menses and became normotensive. This case illustrates that ACTH and DEX cannot reliably differentiate tumor from hyperplasia, whereas the simultaneous increase of delta 4 and delta 5 steroids, present here, may favor a tumor. This case also allows speculation that the hypersecretion of DOC may result from inhibition of 11 beta-hydroxylase activity by excess androgens. The importance of appropriate imaging for diagnosis is underscored.- - - - - - - - - - ranking = 1.3333333333333keywords = androgen (Clic here for more details about this article) |
4/114. prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia.Congenital adrenal hyperplasia (CAH) consists of autosomal recessive disorders of cortisol biosynthesis, which in the majority of cases result from 21-hydroxylase deficiency. Another enzymatic defect causing CAH is 11beta-hydroxylase deficiency. In both forms, the resulting excessive androgen secretion causes genital virilization of the female fetus. For over 10 yr female fetuses affected with 21-hydroxylase deficiency have been safely and successfully prenatally treated with dexamethasone. We report here the first successful prenatal treatment with dexamethasone of an affected female with 11beta-hydroxylase deficiency CAH. The family had two girls affected with 1beta-hydroxylase deficiency born with severe ambiguous genitalia who were both homozygous for the T318M mutation in the CYP11B1 gene, which codes for the 11beta-hydroxylase enzyme. In the third pregnancy in this family, the female fetus was treated in utero by administering dexamethasone to the mother, starting at 5 weeks gestation. The treatment was successful, as the newborn was not virilized and had normal female external genitalia. A second family with two affected sons was also studied in preparation for a future pregnancy. We report a novel 1-bp deletion in codon 394 (R394delta1) in the CYP11B1 gene in this family.- - - - - - - - - - ranking = 0.16666666666667keywords = androgen (Clic here for more details about this article) |
5/114. Masculinizing granulosa cell tumor of the ovary in a postmenopausal woman. A case report.BACKGROUND: A total of 32 cases of virilizing granulosa cell tumors of the ovary have been reported. The current case has some unique features not previously reported. CASE: A 78-year-old woman presented with symptoms and signs of masculinization. A large, painless abdominal mass was discovered. Exploration revealed the mass to be originating in the left ovary, and surgical resection resulted in prompt reversal of the clinical and biochemical hyperandrogenic manifestations. Morphologic studies demonstrated a homogeneous granulosa cell tumor. CONCLUSION: This is the oldest patient on record with a masculinizing granulosa cell tumor and also the only masculinizing tumor presenting with advanced, stage III disease. Such tumors, although rare, should be considered in the differential diagnosis in postmenopausal women presenting with masculinizing symptoms.- - - - - - - - - - ranking = 0.16666666666667keywords = androgen (Clic here for more details about this article) |
6/114. 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 = 0.83333333333333keywords = androgen (Clic here for more details about this article) |
7/114. 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 = 0.16666666666667keywords = androgen (Clic here for more details about this article) |
8/114. Androgen-secreting steroid cell tumor of the ovary.We present the case of a 93-year-old virilized woman with an androgen-secreting ovarian tumor. This rare ovarian sex cord stromal tumor behaved in a malignant fashion. Various aspects of the presentation, diagnosis, and treatment of these tumors are discussed.- - - - - - - - - - ranking = 0.16666666666667keywords = androgen (Clic here for more details about this article) |
9/114. Extraovarian steroid cell tumor 'not otherwise specified' as a rare cause of virilization in twelve-year-old girl.BACKGROUND: We present a 12-year-old girl with a 5-year history of progressive virilization. RESULTS: Regarding elevated plasma levels of 17-hydroxyprogesterone (17-OHP) and androgens, normal ultrasound and CT scan of ovaries and adrenal glands, the nonclassic form of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency was presumed the cause of virilization. As the glucocorticoid therapy did not normalize high levels of 17-OHP and androgens, and the dna analysis did not demonstrate a mutation causing CAH, a laparotomy was performed. Near the right ovary a tumor was found and extirpated. Pathohistological studies determined it to be a rare steroid cell tumor, 'not otherwise specified'. Within the next months the signs of virilization resolved and menarche occurred. CONCLUSIONS: Steroid cell tumor should be considered in differential diagnosis of virilization in childhood. Regarding the age of our patient and pathohistological findings of the tumor, her prognosis is favorable.- - - - - - - - - - ranking = 0.33333333333333keywords = androgen (Clic here for more details about this article) |
10/114. 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 = 0.16666666666667keywords = androgen (Clic here for more details about this article) |
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