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)

In a unique patient with secondary amenorrhea and hirsutism prior to pregnancy, lutein cysts with hyperreactio luteinalis enlarged the ovaries to a diameter of 25 cm during pregnancy. The purpose of the study was to explore the possibility that placental aromatization of androgens may be a metabolic barrier that offers protection against masculinization of a female fetus. Maternal serum, umbilical cord serum and lutein cyst fluid were analyzed for testosterone, progesterone and estradiol content. The cardinal clinical findings were marked maternal virilization but no fetal masculinization. At the time of delivery, massive ovarian production of testosterone and a large maternal-fetal testosterone gradient were found. The maternal arm vein testosterone level, 15,000 ng/dl, was about 100 times normal level, the material ovarian vein level was 51,800 ng/dl, while the cord blood level was only 465 ng/dl. At the same time there was an increase in fetal cord blood estradiol to 33 ng/ml, a 7-fold increase compared to normal cord levels. A protective mechanism for the fetus may exist when maternal androgens are markedly elevated due to a maternal endocrinopathy concurrent with pregnancy. Our data are compatible with the concept that placental aromatization of androgens may function as a metabolic barrier, thus offering protection to the fetus from excessive maternal androgens. Another facet of the protective mechanism may be increased fetal exposure to potent estrogens, which may buffer the influence of androgens reaching the fetus.
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PMID:Fetal protection against masculinization with hyperreactio luteinalis and virilization. 112 89

A 15-year-old girl presented to a primary care clinic with secondary amenorrhea, masculinization, and rapidly increasing abdominal girth. Evaluation revealed a large pelvic mass, which was found at laparotomy to be a bilateral Sertoli-Leydig cell tumor producing androgens and high levels of alpha-fetoprotein (AFP). The patient underwent bilateral salpingo-oophorectomy. Other pelvic structures were uninvolved. The postoperative course was unremarkable, with testosterone and AFP levels in the normal range. A thorough literature search revealed no cases in which bilateral Sertoli-Leydig cell tumors were associated with high AFP levels. This case was unusual in its pathology, dramatic in its presentation, and valuable in its implications regarding the work-up of amenorrhea in young women.
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PMID:Sertoli-Leydig cell tumor of the ovary: a rare cause of amenorrhea. 156 81

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

We present a case in which self-treatment of lichen sclerosus with large doses of topical testosterone resulted in marked masculinization and may have caused secondary amenorrhea. These changes have not previously been reported as side effects of topical testosterone use.
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PMID:Autogenic masculinization. 237 33

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

A 27-yr female patient was admitted to the hospital because of secondary amenorrhea and a severe and complex virilization syndrome. The urinary 17-Ks, 17 OHCS and testosterone glucuronide values were greatly increased. The plasma testosterone through very high, was within the normal limits in males (3.52 ng/ml). Urography, echography and CT scan revealed a large right adrenal tumor. Removal of the tumor brought about a considerable clinical improvement: reoccurrence of the menstrual cycle, a progressive decrease in the virilization syndrome and normalization of the urinary 17-Ks, 17-OHCS and of the plasma testosterone.
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PMID:Unusually large adrenal adenoma excreting unusually large amounts of androgen metabolites in urine. 338 88

This is a complete outlined summary of menstrual disorders of puberty. First diagnostic procedures are suggested, such as history, evaluation of degree of pubertal development, and gynecologic, neurologic, and psychiatric exam, with temperature curve, vaginal smear, basal and stimulated hormone tests, and chromosome studies as required. Common but probably not pathologic complaints include dysmenorrhea (rule out ovarian cyst, endometriosis, congenital malformation); menstrual irregularity (rule out Stein-Levinthal syndrome); menometrorrhagia (rule out Willebrand's syndrome and vaginal or uterine tumor). Primary amenorrhea, if not simply late development, could be due to ovarian dysgenesis, Turner's syndrome, sellar tumor, olfactory-genital syndrome, testicular feminization syndrome, or malformation of the vagina or uterus. Amenorrhea with virilization may be of adrenal or ovarian origin, distinguished by whether urinary ketosteroids are elevated after adrenal inhibition or after ovarian stimulation. Secondary amenorrhea may possibly be related to hypothyroidism, adrenal androgens, pregnancy, or psychogenic causes. If urinary gonadotropins are high, ovarian tumor, primitive ovarian insufficiency, or gonadal dysgenesis may be suspected; of if gonadotropins are low, primitive hypothalamic syndrome, tumor, or iatrogenic causes may be considered as causes of secondary amenorrhea.
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PMID:[Menstrual disorders at puberty]. 484 92

Lipid cell tumor of the ovary is among the rarest tumors belonging to the virilizing group of ovarian neoplasms. A lipid cell tumor of the ovary is described in an 18-year-old woman with secondary amenorrhea, hirsutism, and frank virilization. Current diagnostic features, preoperative and postoperative androgen determinations, and histomorphological and ultrastructural studies are presented. Prompt diagnosis and treatment are emphasized in this potentially malignant and disfiguring androgenic tumor that is readily amenable to surgery.
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PMID:Virilizing lipid cell tumor of the ovary: light and electron microscopic studies. 631 Jan 34

A 39-year-old woman presented with secondary amenorrhoea in the absence of galactorrhoea, hirsutism or virilization. Investigation revealed a strikingly elevated serum testosterone, dihydrotesterone, free testosterone and LH level. At laparotomy a large granulosa cell tumour was encountered and totally removed. Analysis of the tumour revealed 127 ng of testosterone/mg of tumour tissue. The testosterone was localized immunocytochemically to the granulosa cells, which demonstrated typical ultrastructural characteristics of oestrogen rather than androgen secreting tissue. A study of androgen binding and metabolism prior to tumour resection revealed a normal androgen receptor as evidenced by normal maximum binding, dissociation constant and nuclear uptake. Removal of the tumour resulted in a return to normal of all abnormalities. We conclude that granulosa cell tumours may rarely secret large amounts of testosterone and that in this situation their ultrastructure is unchanged. Furthermore, absence of LH suppression or hirsutism in an amenorrhoeic patient does not dismiss the possibility of a significant androgen-secreting tumour. In this situation, the failure to virilize may be due to a post-nuclear translocational defect.
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PMID:Amenorrhoea and failure to virilize in a patient with a testosterone secreting granulosa cell tumour. 716 70

A case is described of massive ovarian oedema with secondary amenorrhoea and evidence of masculinization in a young girl. Pre-operative testosterone levels in peripheral plasma were markedly raised, but returned to normal immediately following wedge resection of both ovaries. Microscopic examination revealed lutein cells in the right ovary which were predominantly located within and around atretric follicles and Stein-Leventhal-like features in the left ovary. Irregular ovulatory cycles started four weeks after surgery.
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PMID:Massive ovarian oedema. Case report. 723 62


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