Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021359 (infertility)
 26,075 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Twenty women with acne vulgaris who presented to a gynecologist's office with the complaints of hirsutism, infertility, menorrhagia, or oligomenorrhea were subjected to a 24-hour cosyntropin (ACTH) infusion to detect partial 11- or 21-adrenocortical hydroxylase deficiencies. All patients demonstrated enzymatic defects and were placed on prednisone therapy. The six patients with moderate acne either showed improvement of their acne or conceived. Of the 14 patients with mild acne, seven showed improvement of their acne or conceived; whereas, the remainder showed no improvement. Patients with acne and gynecologic signs and symptoms should be evaluated for the presence of 11- or 21-adrenocortical hydroxylase deficiencies.
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PMID:Therapy of adrenocortical hydroxylase deficiencies in acne vulgaris. 22 96

A sample of 225 men examined at the Infertility Service Unit of this hospital had spermiograms, standardized in accordance with WHO guide lines, and a hormone stimulation test with injection of gonadotropin releasing hormone, thyrotropin releasing hormone, and ACTH. The serum concentrations of the following hormones were assessed: follicle stimulating hormone (FSH), luteinizing hormone (LH), prolactin, oestradiol (E), thyroid stimulating hormone, cortisol, 21-desoxycortisol, 17-hydroxypregnenolone, 17-hydroxyprogesterone, dehydroepiandrosterone, dehydroepiandrosteronesulphate, androstenedione, testosterone (T), and dihydrotestosterone. The results of the spermiograms were found to be related to the concentrations of the following hormones: FSH, LH, T, and E. Thyroid and adrenal function in men without signs of endocrinological diseases failed to influence spermatic parameters.
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PMID:Routine hormone load tests are unnecessary in infertile men. 132 41

Overall 146 females suffering from essential hypertension (borderline, stage I and II according to WHO, 1980) were examined for basal concentrations of estradiol, estriol, progesterone, testosterone, cortisol, ACTH, prolactin in plasma, LH and FSH in blood and urine. The patients and 69 control normotensive females were reproductive, premenopausal, menopausal, postmenopausal, postcastration. Latent hypertension was elicited at bicycle exercise. It was found that relationships between sex hormones and gonadotropins both in hypertensive and normotensive women did not differ noticeably in reproductive period and in menopause. Hormone defects due to primary and secondary infertility, castration, menopause did not raise the risk of arterial hypertension onset. An-Unfavorable course of hypertension was observed in premenopause, following operative castration, in climacteric syndrome. The severity of AH at reproductive age was associated with hyposecretion of progesterone, estrogens and gonadotropins LH, FSH. This relationship was absent in menopausal women. A conclusion is proposed on miner significance of sex hormones imbalance and gonadotropins in the onset of arterial hypertension in females varying by generative activity.
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PMID:[Role of imbalance of sex hormones and gonadotropins in the development and course of essential hypertension in women]. 132 46

The aim of this study was to determine the prevalence of late-onset congenital adrenal hyperplasia (LOCAH) in a group of hyperandrogenic women presenting with menstrual disturbances and/or infertility. Thirty-five women were evaluated by basal hormonal profiles and underwent ACTH stimulation testing. In this study, 17.1% of women showed evidence of partial 21-OH deficiency (21-OHD), and 5.7% 3 beta-HSD deficiency. Neither basal hormonal levels nor clinical characteristics distinguished women with LOCAH from other hyperandrogenic women. And although the mean basal 17-OH progesterone (17-OHP) level in women with 21-OHD (152 +/- 66 ng/dl) was significantly higher than levels in other hirsute women, 4 of 6 (67%) women with 21-OHD had normal 17-OHP levels. Thus, to identify all affected individuals with partial 21-OHD, our data suggest that hyperandrogenic women with basal unsuppressed 17-OHP levels greater than 100 ng/dl should undergo dynamic testing. With regard to partial 3 beta-HSD deficiency, basal DHEA-S levels greater than the 95th percentile of other hirsute women may be used to screen for this deficiency. In conclusion, LOCAH due to partial steroid enzyme deficiencies are a frequent occurrence in women who present with symptoms of hyperandrogenism and ACTH stimulation remains an important tool in making the diagnosis of enzyme deficiencies.
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PMID:Late-onset congenital adrenal hyperplasia in a group of hyperandrogenic women. 166 83

21-Hydroxylase-deficient late-onset adrenal hyperplasia (LOAH) appears to affect 1-6% of hyperandrogenic women. Screening and diagnostic criteria for LOAH have not been well established, as these patients are clinically indistinguishable from other hyperandrogenic women. The following prospective study was undertaken to 1) determine the predictive value of screening hyperandrogenic women for LOAH with a morning follicular phase basal 17-hydroxyprogesterone (17-HP) level and 2) compare the various in vivo estimates of 21-hydroxylase activity after adrenal stimulation for the diagnosis of LOAH. Twenty-one euandrogenic control women (physically normal, without hirsutism, with regular menses, and a negative family history) were studied. The clinical population consisted of 164 consecutive unselected patients seen at the Division of Reproductive Endocrinology and Infertility of Johns Hopkins University School of Medicine between 1983 and 1987 demonstrating hirsutism and/or hyperandrogenic oligomenorrhea. Controls and patients underwent acute adrenal stimulation with 1 mg ACTH-(1-24), administered in the morning to fasting patients in the follicular phase of their menstrual cycle. Blood was sampled before and 30 min after ACTH-(1-24) administration. Steroid RIA determinations were performed for 17-HP, progesterone, testosterone, dehydroepiandrosterone sulfate, androstenedione, FSH, LH, and PRL. Three estimates of 21-hydroxylase activity were studied: the 17-HP level 30 min post-ACTH (17-HP30), the change in 17-HP (delta 17-HP0-30) and the summed rate of change in 17-HP and progesterone ([delta 17-HP0-30) + delta P0-30]/30 min). The upper 95th percentiles for these estimates of 21-hydroxylase activity in control women were 9.6 nmol/L (316 ng/dL), 8.8 nmol/L (292 ng/dL), and 0.39 nmol/L.min (13 ng/dL.min), respectively. Thirteen of 164 (7.9%) hyperandrogenic women had at least 1 abnormal 21-hydroxylase measurement. Four of these women (2.4%) had 17-HP measurements 3- to 20-fold above the upper normal 95th percentile (17-HP30 greater than 36.3 nmol/L or 1200 ng/dL) and were considered as suffering from LOAH. In our population the 3 measures of 21-hydroxylase studied clearly differentiated the LOAH women from all others, although a single 17-HP level 30 min post-ACTH was the simplest and most cost effective. Nine other hyperandrogenic women (5.5%) had at least 1 abnormal 21-hydroxylase measurement less than 3-fold the upper normal 95th percentile value and were designated as having mild 21-hydroxylase deficiency.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:21-Hydroxylase deficiency in female hyperandrogenism: screening and diagnosis. 254 27

About 90% of CAH cases are due to 21-hydroxylase (21-OH) deficiency. There are decreased cortisol and increased ACTH secretions; and elevated cortisol precursors and androgens. CAH is an important factor of menstrual disorders and infertility. Pregnancy is very much uncommon in the classic form, and 90% of reported cases belong to the postnatal form. The authors present two patients with classic form of CAH (21-OH deficiency) who became pregnant. They had been treated in early childhood (2-4 years old) with glucocorticoids and had surgical correction of the ambiguous external genitalia. During pregnancy, daily prednisone dose was raised to 5 mg twice, serum levels of 17-hydroxyprogesterone (17-OHP) and androgens were monthly measured. The 17-OHP levels remained high (about 1.6 ng/dl), and androgens (testosterone, androstenedione, SDHEA) levels remained normal. Cesarean section was performed in both cases; newborns were normal and 17-OHP was within normal limits. Adequate early replacement therapy has improved fertility and pregnancy.
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PMID:[Congenital adrenal hyperplasia and pregnancy]. 262 59

A combined study, including phlebography, phlebotonometry, orchidometry, morphometric determination of microcirculatory testicular volume, microscopic and biochemical ejaculate studies, determination of peripheral blood levels of adrenocortical mineral glucocorticoid hormones before and after ACTH administration in the blood, sampled from various veins prior to phlebography, assessment of osmolality, pO2 and pCO2 in the blood samples from spermatic venous plexus, left renal vein and intrarenal portion of the vena cava inferior, and determination of plasma renin activity in renal veins, was conducted in 55 patients with varicocele. A considerable increase in orthostatic blood pressure of the left spermatic venous plexus is demonstrated that may be due to retrograde blood flow in the left testicular venous plexus, resulting in a microcirculatory disturbance and gradual atrophy of a testicle. There was a correlation between the severity of varicocele and left-testicular volume which was absent for total testicular volume, while microcirculatory volumes of the testes differed significantly, suggesting the absence of hemodynamic disorders in the contralateral testicle and, consequently, no spermatogenetic impairment due to hemodynamic changes in cases of a unilateral varicocele. Phlebographic and phlebotonometric evidence points to a retrograde blood flow through the central vein of the left adrenal. The results of adrenal functional studies demonstrate a significant tendency to adrenal hypersynthesis of aldosterone and cortisol in patients with varicocele. A correlation demonstrated between peripheral blood cortisol level and the proportion of spermatozoa with abnormal headpiece structure in the ejaculate has suggested a cause-and-effect relationship between adrenal dysfunction and infertility in patients with varicocele.
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PMID:[The role of disorders of mineralocorticoid function of the adrenal glands in the development of infertility in patients with left-side varicocele]. 272 40

It is now established that peptide hormones are among the most versatile substances involved in intercellular communications. By substitution of one or more natural aminoacids, numerous peptide analogues have been synthesized with increased duration of action and potency with respect to endogenous hormones. Most of these effects are programmable as a function of dose and timing of administration. Not surprisingly, the chronobiological use of hormone-related peptides may represent a valuable tool providing new approaches to diagnosis and therapy of different disease states. One pertinent example of the applicability of peptide analogues refers to a new short chain ACTH analogue (ACTH 1-17; Synchrodyn) that has been proved useful to reset or preset the rhythmic ordering of a number of functions and to provide, furthermore, information about specific pathogenetic mechanisms and/or subtle alterations of the adrenal function. A large body of evidence indicates that the same concepts apply to most actions of the gonadotropin-releasing hormone (LH-RH) related analogues. The efficacy of the so-called low-dose pulsatile LH-RH therapy in the management of hypogonadotropic hypogonadism and of some forms of infertility seems now established. The use of potent analogues is providing new approaches to the heretofore unsuccessful therapies in a number of disease conditions. In this light, chronoendocrinology and biotechnology have to be mutually supporting. Novel clinical applications are expected from the emerging use of portable instrumentation designed to record endogenous data and/or to deliver drugs according to a temporal program.
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PMID:Progress in chronophysiology of peptide hormones with emphasis on clinical application of analogues. 299 10

The effects of the gonadotrophin-releasing hormone, synthetic decapeptide luteinizing hormone/follicle stimulating hormone-releasing hormone (LH/FSH-RH), have been studied in 18 normal men and five women in the follicular phase of their menstrual cycle. Rapid and dose-dependent (25 to 100 mug) increases in serum immunoreactive LH were seen, which reached a peak 20 to 30 minutes after a rapid intravenous injection. Similar but much smaller increases in serum immunoreactive FSH were seen. These conclusions have been validated by using two different immunoassay systems for each hormone. The LH/FSH-RH therefore causes both LH and FSH release in man as in animals but does not affect growth hormone, thyrotrophin, or ACTH. The gonadotrophin responses were the same in the women as in the men but were insufficient in the men to cause statistically significant changes in the serum levels of the gonadal steroid hormones, testosterone or oestradiol, or in their precursors 17 alpha-hydroxyprogesterone or progesterone. In the women, however, there was a rise in oestradiol after the 100-mug doses. The use of LH/FSH-RH will provide an important test to define the level of the lesion in hypogonadal patients and also should be valuable in the treatment of some types of male and female infertility. A simple and clinically useful LH/FSH-RH test of pituitary function is described (100 mug given intravenously), and the provisional normal responses of LH and FSH at 20 and 60 minutes are given.
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PMID:Hormonal responses to synthetic luteinizing hormone and follicle stimulating hormone-releasing hormone in man. 433 74

The case reported is of a 46-year-old woman who had congenital adrenal hyperplasia due to a 21-hydroxylase deficiency, and in whom there was the development of an ACTH secreting pituitary tumour. The patient was untreated with glucocorticoids until the age of 32 years when she presented with infertility. She next presented with amenorrhoea at the age of 44 years when she was found to have an enlarged pituitary fossa. Despite treatment with bromocriptine and adequate doses of dexamethasone, the tumour enlarged and required operative treatment 1 year later. Before and after operation, plasma ACTH levels were between 300 and 400 ng/l, immunocytochemistry showed staining for ACTH and other structurally related pro-opiocortin peptides but for no other hormones, and the tumour secreted large amounts of ACTH in vitro. The report of this case is to our knowledge the first account of a feedback tumour in congenital adrenal hyperplasia and provides yet another reason why patients with this condition should be treated, and good control achieved.
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PMID:An acth-secreting pituitary tumour arising in a patient with congenital adrenal hyperplasia. 629 40


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