Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042755 (masculinization)
 2,562 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Androblastomas of Sertoli-Leydig cell tumors of the ovaries are classified into the group of sex cord stromal tumors and represent an extremely rare form of tumor (0.2% of all ovarian tumors) in women. Their malignant potential is lower than that of epithelial ovarian cancer. They cause signs of virilization, although these are not obligatory. In many cases secondary amenorrhea is the only symptom of the disease. This leads to an intensive search for the source of the disorder. Frequently only the elevated production of androgens gives a preoperative clue to the tumor type. The recommendation to include the measurement of androgen levels in the routine diagnosis of secondary amenorrhea must therefore be endorsed. The tumors are usually sonographically identifiable; in differential diagnosis, hyperandrogenemia of other origins (e.g., Cushing's disease, adrenal hyperplasia, pituitary adenoma, other causes of ovarian and adrenal androgen hypersecretion, intersexuality, medically induced androgenization) have to be ruled out. In view of the good prognosis, the therapy of choice consists simply in adnexectomy of the affected side. With regular measurement of serum androgen levels an effective control of the course of the disorder is possible. A conclusive pathological diagnosis is difficult as heterologous tumors and mixed tumors exist and, furthermore, other tumor types are capable of imitating Sertoli-Leydig cell tumors.
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PMID:Androblastoma of the ovary: clinical, diagnostic and histopathologic features. 1145 24

According to the Androgen Excess and Polycystic Ovary Syndrome Society (AE&PCOS), the main feature of PCOS is clinical hyperandrogenism or laboratory hyperandrogenaemia. Therefore, in diagnosing PCOS one must always exclude other causes of androgen excess. In a woman with hyperandrogenism, the diagnosis of PCOS can usually be made according to the patient's history and careful clinical examination. Signs of mild hyperandrogenaemia usually start after the menarche and cycles continue to be anovulatory in adult life. Non-classical congenital adrenal hyperplasia (NCCAH) can be another cause of hyperandrogenism with oligomenorrhea. This can be diagnosed in a patient with elevated basal or ACTH stimulated serum 17OH-progesterone (17-OHP) levels or in a case of a significant decrease in serum testosterone (TST) and dehydroepiandrosterone sulphate (DHEA-S) in a two day dexamethasone suppression test. Cushing's disease (ACTH producing pituitary adenoma) is a rare cause of hyperandrogenaemia in women with recent onset of hyperandrogenism. However, it must always be taken into the consideration in a patient with accompanying signs of hypercortisolism. It can usually be excluded by performing an overnight dexamethasone suppression test or the measurement of 24 h urinary free cortisol levels. Severe signs of hyperandrogenism which lead to virilization should always lead to the exclusion of androgen secreting tumors of ovarian or adrenal origin. These are very rare but should be always taken into the account in a patient with recent onset of severe signs of androgen excess and very high serum androgen levels. Mild signs of hyperandrogenaemia in a woman with recent oligomenorrhea should always lead to the exclusion of hyperprolactinaemia.
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PMID:Differential diagnosis of hyperandrogenism in women with polycystic ovary syndrome. 2242 86

Cushing's syndrome is rare in childhood and is usually caused by a pituitary adenoma. Primary hyperfunction of adrenal glands is less frequent, particularly primary pigmented nodular adrenocortical disease (PPNAD). It occurs usually in children and adolescents, with female preponderance, while Cushing's disease has increased frequency in prepubertal males. A case of a 6-year-old boy is presented with isolated non-familiar PPNAD. The clinical pattern involved Cushingoid appearance, hypertension, virilization and depressive mood. Laboratory analyses showed loss of circadian rhythm of cortisol, undetectable adrenocorticotropic hormone (ACTH) level, impaired fasting glucose, polycythemia and elevated white blood count (WBC). Radiology investigation revealed a slightly enlarged medial branch of the left adrenal gland and a normal right one, so a unilateral adrenalectomy was performed. Pathohistology described multiple dark brownish pigmented nodules of various sizes confined to the cortex. Contralateral adrenalectomy was done 3 months later. Follow-up of 3 years was uneventful, except for one adrenal crisis during an intercurrent respiratory illness.
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PMID:Primary pigmented nodular adrenocortical disease: literature review and case report of a 6-year-old boy. 2839 Dec 54