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)

A 43-year-old man with a 36-year history of virilization due to an adrenal carcinoma is presented. The initial presentation at age 7 with precocious puberty and epiphyseal bone fusion suggested increased androgen effect at a very early age. The patient's 36-year course before his death suggested either a very slow growing adrenal carcinoma or untreated congenital adrenal hyperplasia that progressed to an adrenal carcinoma. Endocrine evaluation showed markedly increased DHEA and DHEA-sulfate levels. These were associated with elevated plasma and urinary estradiol levels and suppressed LH and FSH plasma concentrations. The 24-hour mean levels of cortisol and testosterone were normal. Studies of the circadian periodicity of cortisol showed a disturbed temporal pattern but a normal 24-hour mean concentration that correlated with a normal cortisol production rate. The 24-hour LH secretory pattern showed a decrease in the normal episodic fluctuation of this hormone over the 24-hour period.
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PMID:Virilizing adrenal cortical carcinoma. 14 75

In order to define the abnormality in gonadotrophin secretion in Japanese women with polycystic ovaries (PCO) who rarely show virilization and markedly enlarged ovaries, basal levels of LH and FSH, and responses of serum gonadotrophins to LH-releasing hormone (LH-RH) or oestrogens were determined by radioimmunoassay. Eleven patients with PCO diagnosed by laparotomy or laparoscopy and 30 normal women in the follicular phase were studied. The mean (+/- SD) basal level of LH was significantly higher in patients with PCO than in normal controls (PCO 28.6 +/- 2.4 vs. normal 10.9 +/- 3.0 mIU/ml), while the mean FSH level in PCO patients was not significantly different from that in the normal controls (9.7 +/- 0.7 vs. 11.4 +/- 2.6 mIU/ml). The mean LH/FSH ratio in PCO patients was significantly higher than that in normal controls (3.2 +/- 0.9 vs. 1.0 +/- 0.3). Exaggerated response of LH to LH-RH was observed in PCO patients, while the FSH response was comparable with the normal controls. Ten out of 11 patients with PCO showed LH release exceeding the basal level after bolus iv injection of 20 mg conjugated oestrogens (Premarin), and virtually the same mean net increase in LH from the basal level was obtained in both PCO patients and normal controls. Since the abnormalities in gonadotrophin secretion in Japanese women with PCO are not different from those reported in patients with PCO in Europe and USA, it seems likely that lower incidence of markedly enlarged ovaries and virilization in Japanese patients may be caused by the difference in ovarian response to gonadotrophin.
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PMID:Responses of serum gonadotrophins to LH-releasing hormone and oestrogens in Japanese women with polycystic ovaries. 19 71

Five patients were found to have hyperthecosis ovarii as evidenced by the presence of large lipid containing thecal cells in the ovarian stroma. The clinical picture was similar in all of them, featuring mild virilization, obesity and oligomenorrhea, with refractoriness to clomid therapy. Plasma FSH levels were low normal, while LH levels were slightly elevated. Urinary 17-ketosteroids levels were elevated, and plasma testosterone concentrations were upper normal. The response to dexamethasone suppression and HCG stimulation is discussed. The effect of wedge resection on the clinical and endocrinologic pictures is evaluated.
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PMID:Hyperthecosis syndrome. Clinical, endocrinologic and histologic findings. 41 61

Boy 15. Aspect of delayed puberty with empty scrotum and gynecomastia. Caryotype 46, XX. Presence of H.Y. Antigen. Plasmatic testosterone 1 020 pg/ml. Normal plasmatic FSH and LH. Hypotrophic uterus and tubes. No gonad found. Small right epididymis. Complete virilization by testosterone.
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PMID:[Apparent internal male pseudo-hermaphroditism. Gynecomastia. Negative gonad surgical research. Caryotype 46, XX. Presence of H-Y antigen (author's transl)]. 61 73

Fourteen patients with clinically diagnosed and surgically documented polycystic ovarian (Stein-Leventhal) disease (PCOD) and 16 normal control women were studied to identify the laboratory test or tests that, from the clinician's point of view, are most likely to aid in the nonsurgical diagnosis of the disease. A single random morning blood specimen was assayed in all cases for testosterone, epitestosterone, androstenedione, FSH and LH. The mean testosterone level for the PCOD patients was significantly greater (p less than 0.001) than that for the controls, with 50% of the patients showing elevated levels. Androstenedione showed a similar pattern, but mean epitestosterone levels were not significantly different from controls. FSH was not significantly different, but LH levels were significantly higher than controls (p less than 0.005), with 10 of 13 (77%) demonstrating elevated levels. A strong positive correlation was also found between the degree of virilization and the levels of LH, testosterone and androstenedione. This study suggests that the most useful diagnostic laboratory assay from a single drawing of blood is the serum LH; the only other useful test is testosterone and/or androstenedione. These data do not support other reports of elevated levels of epitestosterone or decreased values of FSH in PCOD.
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PMID:The utility and selection of laboratory tests in the diagnosis of the polycystic ovary syndrome. 67 1

Changes in serum and pituitary LH and FSH concentrations have been measured in the newborn male rat before, during, and up to 24 h after birth. A sudden and transient increase of serum and pituitary gonadotropins is observed at birth, which is followed by a rapid increase of absolute and relative testicular weights between 2--12 h (P less than 0.0001) and by a transient increase of serum testosterone between 0 h in utero (810 +/- 26 pg/ml) and 2 h (2820 +/- 318 pg/ml; P less than 0.0001). Similarly, premature newborn rats obtained by cesarian delivery on day 20 of gestation also exhibited an increase in testicular weight between 0--6 h and an increase in serum testosterone levels between 0 h (730 +/- 170 pg/ml) and 2 h (3400 +/- 300 pg/ml; P less than 0.001) with only a slight increase in serum LH. These results show that the hypophyseo-testicular axis of the rats is stimulated at the moment of birth. The factors responsible for this stimulation are discussed. This transient testicular crisis occurring at birth could affect the process of masculinization of the central nervous system of the rat.
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PMID:Changes in testicular weight and serum gonadotropin and testosterone levels before, during, and after birth in the perinatal rat. 74 30

Four male pseudohermaphrodites from two families have been described. Although reared as females, at puberty, the timing, pattern, and degree of masculinization was similar to that of a normal male. No feminization occurred. They had normal testicular testosterone synthesis as judged by plasma testosterone, LH and FSH concentrations, as well as incubations of testicular minces with labeled precursors. Studies on cultured skin fibroblasts indicated adequate peripheral 5 alpha-reductase and normal receptor affinity and capacity for dihydrotestosterone. The histology of the testis was suggestive of a primary testicular defect. A mosaic pattern was seen: some areas contained tubules with active spermiogenesis; other areas, only Sertoli cells. These male pseudohermaphrodites appear to have a defect in fetal testicular maturation in which inadequate fetal testosterone synthesis and defective differentiation of germinal elements occurred.
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PMID:Familial male pseudohermaphroditism with normal Leydig cell function at puberty. 75 43

A 16-yr-old 46 XY individual with a familial incomplete male pseudohermaphroditism closely resembling the syndrome described by Gilbert-Dreyfus et al. was studied. The patient's habitus was masculine despite the presence of a small phallus, pseudo-vaginal perineal hypospadias, bifid scrotum, gynecomastia, and diminished virilization. Blood samples obtained at 20-min intervals were submitted to hormone analysis. Episodic fluctuations of plasma gonadotropins with mean values of LH above the normal male range and FSH within normal limits were observed. Moderately elevated plasma testosterone and increased plasma estradiol also showed episodic oscillations. The administration of LH-releasing hormone resulted in a significative increase of plasma LH and FSH. Testicular biopsy revealed the presence of seminiferous tubules with few spermatogonia and no spermatocytes, and normal sertoli and interstitial cells. Gonadal stimulation with hCG for 4 consecutive days induced a significative increase of plasma testosterone and estradiol. The daily administration of 50 mg of testosterone propionate for 3 days neither depressed the circulating levels of gonadotropins nor modified the pulsatile pattern of gonadotropins release. Administration of testosterone and 5alpha-dihydrotestosterone propionate failed to diminish plasma LH and FSH levels. Testosterone administration for 10 weeks also failed to induce virilization. These results are similar to those observed in patients with testicular feminization syndrome, and the underlying abnormality involves a partial defect of the mechanism of action of testosterone rather than decreased androgen biosynthesis. According to a recently proposed classification this individual corresponds to the type 1 incomplete male pseudohermaphroditism.
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PMID:Familial incomplete virilization due to partial end organ insensitivity to androgens. 118 25

A 76-year-old woman with virilization had menopausal levels of circulating LH and FSH, and a markedly elevated concentration of plasma testosterone (9130 pg/ml) into the range for adult men. Plasma cortisol and androstenedione levels andurinary 17-ketosteroid secretion were normal. Ethinyl estradiol suppressed plasma testosterone, LH, and FSH levels into the normal range for premenopausal women, but the testosterone concentration was unaffected by the administration of dexamethasone or ACTH. Retrograde venous sampling and angiography localized a right adrenal adenoma preoperatively. Following adrenalectomy, there was a prompt fall in testosterone, but there was no change in the LH concentration. Thus, this patient had an adrenal adenoma which secreted only testosterone and appeared to be gonadotropin-responsive. Testosterone levels in the adult male range failed to suppress gonadotropins. The significance of these findings is discussed.
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PMID:A testosterone-producing adrenal cortical adenoma in an elderly woman. 127 May 80

Fertility was evaluated in 53 female patients with late-onset adrenal hyperplasia (LAH) due to 21-hydroxylase deficiency. The majority of patients (n = 33) were seen for isolated postpubertal hirsutism, 9 patients consulted for sterility, and 11 for irregular menstrual cycles. At the time of diagnosis, the ages of patients ranged from 15-40 yr (mean +/- SD, 24.6 +/- 5.2). No patient had major signs of virilization. The plasma 17-hydroxyprogesterone level was higher than normal in all patients (26.8 +/- 18.9 nmol/L; range, 3.4-139.4) and dramatically increased to 140.1 +/- 80.6 nmol/L (range, 35.2-324.2) after ACTH treatment. Plasma androgen levels were high (testosterone, 3.25 +/- 2.03 nmol/L; delta 4-androstenedione, 13.65 +/- 5.60 nmol/L). Plasma basal and LHRH-stimulated values were normal for FSH and high for LH. Basal and TRH-stimulated plasma PRL levels were normal. Among these 53 LAH patients, only 20 desired a pregnancy. These had a total of 38 pregnancies. Ten patients became pregnant before the diagnosis of LAH and without any treatment; they had a total of 18 pregnancies, 12 of which were successful. Moreover, 19 normal pregnancies without any spontaneous abortion were carried to term by 14 of 16 hydrocortisone-treated patients. One patient needed the association of one cure of clomiphene citrate. Hypofertility in LAH patients seems, therefore, to be relative. Its mechanism is hormonal, with anovulation or dysovulation, due to the continuous steroid feedback of adrenal origin on the hypothalamo-pituitary axis. Hydrocortisone is the appropriate treatment in most cases, reducing adrenal androgen overproduction and relieving hypothalamic-pituitary gonadotropin function, thereby making possible cyclic ovarian activity and ovulations.
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PMID:Fertility in women with late-onset adrenal hyperplasia due to 21-hydroxylase deficiency. 131 Sep 99


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