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)

Sclerosing stromal cell tumors of the ovary are an uncommon neoplasm that usually does not produce hormonal imbalances. Most patients showing a hormonal effect from this lesion have had menstrual cycle disturbances. Infertility and endometrial hyperplasia have also been described. One other reported case had masculinizing effects. Other authors have documented elevated levels of both estrogenic and androgenic hormones that corrected after surgery. A case of a pregnant 27-year-old Caucasian with hirsutism on her chin and neck and a male suprapubic hair pattern is presented. Elevated androstenedione, dehydroepiandrosterone, and free testosterone levels were present. A 3-cm left ovarian mass was excised and identified as a sclerosing stromal tumor. The histologic features included a pseudolobular pattern with focal areas of sclerosis and a two-cell population of spindled and polygonal cells. Immunohistochemical studies showed a positive vimentin reaction, weakly positive desmin and muscle-specific actin stains, and a negative cytokeratin stain. Following surgery the hormone levels returned to normal and the hirsutism resolved. A normal female infant without evidence of masculinization was delivered from the patient at term.
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PMID:Masculinizing sclerosing stromal tumor of the ovary during pregnancy. 175

Hirsutism as a sign of hyperandrogenism is a common endocrinological disorder in women. Its spectrum varies from mild forms with dominating psychic component to severe forms associated with virilization. The severity should be assessed by semiobjective scoring systems, the use of which also allows the systematic follow-up of the results of treatment. An increase in serum androgen levels or an increased turnover of androgens can be detected in most patients. Enhanced peripheral conversion of androgens to locally acting androgen also leads to hirsutism. The thorough investigation of the endocrinological milieu is required to rule out androgen producing neoplasms. In most patient, however, disturbances are functional, among which polycystic ovary syndrome is the commonest. It is a disorder exhibiting a complexity of changes in endocrinological interactions. Besides inappropriate gonadotropin secretion insulin and insulin like growth factor are also involved. The opioidergic system also seems to be affected. Polycystic ovary syndrome is also associated with obesity and infertility, both of which require attention.
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PMID:Hirsutism: definitions and etiology. 219 64

This is a comprehensive review of the risk of infertility or adverse effects on pregnancy outcome, such as chromosomal or congenital birth defects, amenorrhea, pelvic inflammatory disease (PID), or spontaneous abortion, after use of oral contraceptives, IUDs, induced abortion or spermicides. The sequelae reported for orals are chromosomal abnormalities, the VACTERL anomalies, masculinization of female fetus, Down's syndrome and post-pill amenorrhea. Several large studies found no increased risks for birth defects, although the risk of malformations when pregnant women inadvertently take the pill in early pregnancy was high in 1 of 2 such studies. Masculinization was reported with high dose combined hormone treatment and in 2 infants of a woman who took Enovid. the bulk of recent studies on secondary amenorrhea indicate that it is rare, but just as likely to occur in women with prior normal or abnormal menstrual patterns. One study found that amenorrhea is 7.7 times more likely to develop in women who took the pill to regulate menses. It is recommended that women with amenorrhea be screened for pituitary tumors and counseled before prescribing pills, and that those who fail to ovulate after stopping the pill be treated at least 6 months with clomiphene. A massing of all studies on the impact of 1st trimester induced abortion on subsequent fertility, premature delivery and spontaneous abortion, shows all relative risks around 1.0. After multiple abortions, the results are conflicting. In contrast, prior series analyzing illegal abortion have an unquestioned adverse effect on fertility and pregnancy outcome. Asherman's syndrome, a rare disorder of intrauterine adhesions, menstrual abnormalities, infertility and habitual abortion, has been associated with D & C abortion concurrent with pelvic sepsis, or traumatic pregnancy with D & C. This condition can be treated with moderate success. The bulk of IUD studies conclude that there is no overall decrement in fertility, while some disaggregated studies point the Dalkon shield as a higher risk and copper IUDs as a lower risk. PID and its consequences are now considered related to the immediate post-insertion time frame, or specifically to women who are at risk of contracting sexually transmitted disease, i.e., those with multiple partners, those with prior PID and nulliparas. Comprehensive review of current large series on spermicides shows no relationship between their use and spontaneous abortion or congenital malformation.
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PMID:Fertility after contraception or abortion. 220 74

A 32-yr-old man with a history of hypospadias, unilateral cryptorchidism, and pubertal gynecomastia (all surgically corrected) presented with complaints of infertility. Examination revealed scant virilization, recurrence of gynecomastia, small but normal sized testes, small prostate, and oligospermia. His plasma LH, testosterone, dihydrotestosterone, and estradiol levels were high, and his plasma FSH was below the reference range of adult men. An assay of pubic skin fibroblast androgen receptors confirmed the diagnosis of a form of incomplete androgen insensitivity syndrome. Administration of the estrogen receptor antagonist tamoxifen (10 mg, twice daily) induced an increase in plasma FSH greater than that which occurred in six men with idiopathic oligospermia. This man's wife conceived three times during a period of 5 yr, each time after he had received tamoxifen for 12-20 weeks and had considerable improvement of sperm parameters. Conversely, upon cessation of tamoxifen therapy, the semen abnormalities returned. These results indicate that estrogen action impaired this man's fertility, and the impairment could be reversed by administration of an estrogen receptor antagonist.
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PMID:Improvement of spermatogenesis after treatment with the antiestrogen tamoxifen in a man with the incomplete androgen insensitivity syndrome. 256 21

It is important to diagnose hyperandrogenism in women. By disturbing ovulation, it is actually one of the most frequent causes of infertility. In this particular case, its diagnosis has specific implications: sometimes specific treatment is indicated, or the risk of fetal virilization should be prevented. There is always the possibility of a diagnosis of polycystic ovary, prompting precautionary measures to be taken that are likely to limit the risks linked to the multifollicular development that is so frequent with this disorder. In addition, hyperandrogenism exposes the patient to various gynecological and general complications: cancer of the endometrium, progressive increase in menstrual disturbances and infertility, obesity, metabolic disturbances and probably increase in cardiovascular risks. Certain types of hyperandrogenism give rise to diseases that expose the patient to specific risks: virilizing tumors, Cushing's syndrome, neonatal risks linked to congenital hyperplasia of the adrenal glands. Hyperandrogenism should be borne in mind not only when the clinical picture is that of virilization, but also when there is any disturbance in eugonadal ovulation, whether or not this is manifested as menstrual disturbances or as infertility, and especially whether or not it is accompanied by hirsutism.
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PMID:[When and why should hyperandrogenism be searched for in women?]. 267 67

Virilization is usually associated with amenorrhea, infertility and ovarian stromal lesions. Paradoxically, however, it may also be seen in pregnancy; this type of virilization is rare and accompanies ovarian thecosis. Thecosis, also known as thecomatosis and stromal thecosis, is a complex assortment of types of ovarian stromal proliferation associated with various types and amounts of hormonal activity. A patient had progressive virilization that began about seven years after menarche. Nonetheless, she had six pregnancies and bore five normal living children. Her last child, a female, was not affected by the high maternal testosterone levels. The patient's virilization was associated with an ovarian stromal hyperplasia classified as combined thecosis. In this case, as in some others, there was reason to suspect a genetic basis for such progressive virilization with retained fertility; an analysis of it provides insight into the complex nature of ovarian stromal hyperplasia and hormonal activity.
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PMID:Bilateral ovarian thecosis and virilization in pregnancy. A case report. 282 13

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.
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PMID:Large benign virilizing adrenal adenoma. 283 19

A 32-year-old woman presented with secondary amenorrhea and infertility. She was of normal height and her breasts were well developed, but she had streak gonads; there were no signs of virilization, and she showed no somatic stigmata of Turner syndrome. Chromosome analysis revealed a dicentric X;Y translocation with Xq and Yp breakpoints. Centromeric banding demonstrated a Y centromere and a "suppressed" X centromere. The karyotype of the patient was interpreted as 46,X,t(X;Y)(q22;p11). The Yp breakpoint was confirmed by DNA-hybridization studies with six probes detecting Y-specific sequences. These DNA-hybridization studies were consistent with the presence of the long arm, centromere, and much of the proximal short arm of the Y. The Y-DNA studies of this female also revealed the absence of the distal short arm of the Y chromosome, to which the testis-determining factor has previously been localized.
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PMID:A unique dicentric X;Y translocation with Xq and Yp breakpoints: cytogenetic and molecular studies. 303 38

The genetic, biochemical, clinical and endocrinological features of four distinct syndromes are described in which defective virilization in genetic and gondal men appears to result from resistance to androgen action. The clinical appearance of these forms of intersexuality covers the whole spectrum of phenotypical female patients to phenotypically normal appearing men with infertility. Based on studies with cultured genital skin fibroblasts three defects on the level of the androgen target organ can be differentiated in these syndromes: 1. Defective testosterone metabolism, 2. Anomalies of the androgen receptor and a 3. Postreceptor defect.
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PMID:[Clinical aspects of the disordered androgen effect (the androgen resistance syndrome)]. 330 52

mos 45,X/46,X,Y with no bright fluorescence was studied in 4 patients presenting variable phenotypes, from Turner's syndrome, with or without virilization, to ambiguous external genitalia, with combined cytogenetic techniques. G-11 staining demonstrated, in all cases, that the abnormal Y was a dic(Yp). Considerations about the possibility that some of the 46,X,Yq-males attending infertility clinics may be examples of dic(Yp) are made.
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PMID:Combined cytogenetic techniques and non-fluorescent Y. Cytologic evidences of dic(Yp)(q11) in a previously interpreted 46,X,Yq-. 349 Feb 6


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