Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002453 (amenorrhea)
 6,245 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two patients with fibrodysplasia ossificans progressiva (FOP) were treated with disodium etidronate, a disodium salt of ethane-1-hydroxy-1, 1-diphosphonic acid (EHPD) for two years; both had multiple ectopic ossifications of connective tissue. Regular follow-up showed no improvement in joint movement whilst laboratory examination revealed an increase in the serum phosphorus level. Serum calcium and urinary phosphorus excretion remained within normal limits. The urinary calcium excretion varied with the dose of EHDP. X-ray examination showed significant reduction in size and density of the ectopic ossifications, while the density of bones during and after EHDP therapy remained normal. Development of new ossification was inhibited in the active phase of the disease. Suspected side-effects of the drug were occult blood in stools, skin petechiae, and amenorrhoea. Previous reports on the EHDP treatment of disorders with ectopic ossification are summarised.
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PMID:Fibrodysplasia (myositis) ossificans progressiva treated with disodium etidronate. 41 74

Among 80 women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (40 with the simple virilizing form and 40 with the salt-losing form), 40 reported having an adequate introitus and being heterosexually active. In 15 of 25 patients with the simple virilizing form, 25 pregnancies resulted in 20 normal children, whereas only 1 of 15 women with the salt-losing form became pregnant; this pregnancy was electively terminated. Several factors seem to be responsible for the low fertility rates: noncompliance with therapy was probably high, as suggested by hirsutism and poor endocrine follow-up in 25 percent of patients; whereas 49 patients had regular menstrual periods, 14 had irregular periods, 10 had amenorrhea, 5 had undergone hysterectomy, and 2 had entered menopause; 87 percent of patients with salt loss and 50 percent of those with simple virilization (P less than 0.001) had remained single; the vaginal introitus was reported to be inadequate for intercourse by 35 percent of patients (53 percent of those with salt loss and 18 percent of those with simple virilization; P less than 0.002); and heterosexual activity was reported less frequently among patients with an inadequate introitus. The status of the introitus seemed to have a more important role in the sexual activity reported than did the degree of prenatal exposure to androgen (which was higher among patients with salt loss than among those with simple virilization). However, our data did not rule out an effect of androgen exposure on female fetuses. Our experience indicates that improved surgical correction of the external genitalia and better compliance with therapy will be necessary to improve fertility rates among women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
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PMID:Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 349 59

Data is reviewed on premenstrual symptoms which have been related to high suicide and accident rates, employment absentee rates, poor academic performance and acute psychiatric problems. A recent study of healthy young women indicated that 39% had troublesome premenstrual symptoms, 54% passed clots in their menses, 70% had cyclical localized acneiform eruptions and only 17% failed to experience menstrual pain. Common menstrual disorders are classified as either dysmenorrhea or the premenstrual syndrome. Symptoms for the latter usually begin 2-12 days prior to menstruation and include nervous tension, irritability, anxiety, depression, bloated breasts and abdomen, swollen fingers and legs, headaches, dizziness, occasional hypersomia, excessive thirst and appetite. Some women may display an increased susceptibility to migraine, vasomotor rhinitis, asthma, urticaria and epilepsy. Symptoms are usually relieved with the onset of menses. While a definitive etiological theory remains to be substantiated, symptomatic relief has been reported with salt and water restriction and simple diuretics used 7 to 10 days premenstrually. Diazapam or chlordiazepoxide treatment is recommended before oral contraceptive therapy. The premenstrual syndrome may persist after menopause, is unaffected by parity, and sufferers score highly on neuroticism tests. Primary or spasmodic dysmenorrhea occurs in young women, tends to decline with age and parity and has no correlation with premenstrual symptoms or neuroticism. Spasmodic or colicky pain begins and is most severe on the first day of menstruation and may continue for 2-3 days. Treatment of dysmenorrhea with psychotropic drugs or narcotics is discouraged due to the risk of dependence and abuse. Temporary relief for disabling pain may be obtained with oral contraceptives containing synthetic estrogen and progestogen but the inherent risks should be acknowledged. Both disorders have been correlated to menstrual irregularity. Amenorrhea in many women may be precipitated by simple psychological events such as leaving home, while severely stressful events produce a higher incidence. Unless a physiological factor such as malnutrition is operating, menses usually recur spontaneously within a few months. Amenorrhea is a constant feature of anorexia nervosa and may precede related attitudes toward eating and body weight. This syndrome is best regarded as a chronic and often severe neurotic disorder requiring combined physiological and psychological treatment, although some evidence exists to indicate an endocrine disorder. Extensive basic research is needed on the complex relationship between the neuroendocrine system and emotion.
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PMID:Premenstrual symptoms. 473 36

A variety of mild forms of congenital adrenal hyperplasia (CAH) due to partial 21-hydroxylase deficiency have recently been described. We report two families in whom members presented with CAH with various degrees of enzyme deficiency. In family A, two children had the classical salt-losing CAH. Their male sibling and mother presented a very mild asymptomatic form of CAH, characterized by elevated basal plasma levels of 17-hydroxyprogesterone (17-OHP) and exaggerated responses of progesterone and 17-OHP to ACTH stimulation. The Hormonal profile and HLA types of these two individuals suggested allelic compounds, having one mutant gene for classical CAH and another for a mild form. In family B, the proband presented an attenuated form of CAH, manifested by amenorrhea and hirsutism, elevated basal levels of plasma 17-OHP and androgens, as well as markedly increased ACTH response. Two of her four siblings had the same ad HLA type, elevated basal plasma 17-OHP levels, and increased ACTH response. Their father, their paternal aunt, and their paternal uncle had the ab HLA type and normal basal plasma 17-OHP but markedly increased ACTH response. The haplotypes a, b, and d were considered to be linked to a mutation resulting in mild 21-hydroxylase deficiency, the homozygotes with ab HLA type having a milder form of CAH than the homozygotes with the ad HLA type. The wide spectrum of clinical and hormonal characteristics among homozygotes for the 21-hydroxylase deficiency trait suggests that their is a continuum of degree of enzyme deficiency. Furthermore, it suggests that most nonclassical subjects are allelic compounds for variable degrees of severity in the mutation at the 21-hydroxylase locus. More specifically, the study of families A and B shows that the so-called cryptic and attenuated forms of CAH have the same pathophysiological basis.
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PMID:Attenuated forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 628 54

Twenty five patients (10 males and 15 females) aged 0-23 yr with congenital adrenal hyperplasis due to 11 beta-hydroxylase deficiency were studied. They were divided into 13 classic (group A), and 12 mild (group B) patients. The patients of group A were diagnosed at a younger age and had more severe clinical symptoms (ambiguous genitalia in girls, pseudoprecocious puberty in boys). Two had neonatal salt wasting before treatment, and one gynecomastia. Seven had moderate to severe hypertension. Their mean 3 alpha,17,21-trihydroxy-5 beta-pregnan-20-one (THS) and 3 alpha, 21-dihydroxy-5 beta-pregnane-11,20-dione (THDOC) excretion was 14.2 +/- 4.1 and 7.2 +/- 4.2 mg/m2 . day, respectively. The patients of group B had mostly late onset of symptoms (hirsutism, amenorrhea in girls, pseudoprecocious puberty in boys, tall stature, and advanced bone age in both sexes). One boy had bilateral cryptorchidism. Four had moderate hypertension. In seven patients, THS (5.3 +/- 2.3 mg/m2 . day) and THDOC (3.9 +/- 0.5 mg/m2 . day) responded to ACTH. In five, only THS (4.3 +/- 1.1 mg/m2 . day) responded, but THDOC remained undetectable. It is concluded that the clinical and biochemical expression of 11 beta-hydroxylase deficiency is variable, that hypertension in not directly related to deoxycorticosterone, and that, regardless of the intensity of the defect, there are patients in whom the 11 beta-hydroxylation of 17 alpha-hydroxylated steroids only is impaired, and others in whom both the conversion of 17,20-dihydroxy-4-pregnene-3,20-dione and deoxycorticosterone are reduced.
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PMID:Clinical and biochemical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. A study of 25 patients. 629 82

Pregnancy enhances renal functioning. As early as the first week of amenorrhoea, renal plasma flow (RPF) and glomerular filtration rate (GFR) increase by 30 to 50%, with parallel rise in creatinine and urea clearances. The water and salt balance becomes strongly positive. However, the normal mechanisms of NaCl retention (aldosterone, desoxycorticosterone, oestrogens) remain active, counterbalancing the natriuretic effects of progesterone and of increased filtered sodium load. Renal regulation of the acid/base equilibrium is preserved, albeit adjusted to a higher pH threshold. At the beginning of pregnancy uric acid clearance is increased and tubular reabsorption of glucose is decreased. Blood pressure falls by 20 mmHg during the first semester. Prostaglandins and progesterone oppose the vasopressive action of angiotensin in pregnant women, and changes in their metabolism may account for the development of pre-eclampsia.
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PMID:[Kidneys, hypertension and pregnancy. I. Renal function in normal pregnancy (author's transl)]. 709 35

We describe a female patient who was diagnosed and treated at birth for a classic form of salt-losing congenital adrenal hyperplasia. At 17 years of age, against medical advice, she discontinued both mineralocorticoid and glucocorticoid replacement with no resulting clinical symptoms other than the occurrence of amenorrhoea. Steroid metabolites revealed significant abnormalities of the renin-angiotensin-aldosterone axis, as well as of pituitary-adrenal function. Analysis of our patient's DNA showed only one deleterious CYP21 mutation, an intron 2 base pair change activating a cryptic splice site. We speculate that expression of this patient's CYP21 genes may be altered by the effects of ageing or by changes in the steroid milieu.
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PMID:Phenotypic evolution of classic 21-hydroxylase deficiency. 879 46

21-hydroxylase (21-OH) deficiency accounts for the vast majority of nonclassic (NC) forms of congenital adrenal hyperplasia (CAH), and is associated with symptoms detectable either in childhood (precocious puberty) or sometimes only later in adulthood (hirsutism, acne, amenorrhea). While the severe forms of the disease responsible for salt wasting or simple virilization have been extensively studied, the NC 21-OH deficiency is less well characterized, especially in adults. We studied the 21-OH gene (CYP21) in a population of 69 unrelated hyperandrogenic subjects suspected to be homozygous or heterozygous for NC 21-OH deficiency, based on basal and adrenocorticotrophin (ACTH)-stimulated plasma 17-hydroxyprogesterone (17-OHP, 17-OHPSI) and 21-desoxycortisol (21-DOF, 21-DOFSI) levels. To identify all mutations involved, determination of the whole gene sequence, including exons, exon-intron junctions, and promoter region, was performed, followed by a study of large rearrangements and identification of compound heterozygotes. Alterations were identified in at least one allele of 55 hyperandrogenic subjects. Two NC alterations, Val282Leu and Pro454Ser, were detected in 68% and 7% of the affected alleles, respectively, whereas mutations involved in severe forms were identified in 21% of them. These results document the utility of a molecular diagnosis in hyperandrogenic women suspected of being either heterozygous or homozygous for NC 21-OH deficiency and clearly indicate the importance of genetic counseling in such a population.
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PMID:Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women. 938 70

Typical modifications of cardiovascular activity and water and salt homeostasis throughout female reproductive life are well known. Differences in plasma levels of calcitonin gene-related peptide (CGRP) and atrial natriuretic peptide (ANP) have been observed in conditions characterized by different estrogenic levels, suggesting a correlation between female reproductive function and these cardiovascular hormones. The aim of our study was to investigate in hypothalamic amenorrhea the relationship between estrogen deficiency and plasma ANP and CGRP response to adaptive tests (saline infusion test and upright posture test, respectively). Women with hypothalamic amenorrhea (aged 18-28 years) (n = 6) and age-matched healthy controls (n = 6) underwent both functional tests. Plasma CGRP and ANP levels were measured by specific radioimmunoassays before and in course of the tests. Basal plasma CGRP levels of amenorrheic patients did not significantly differ from those of normal women, while basal plasma ANP levels were significantly higher compared to controls (p < 0.01). In amenorrheic women, plasma CGRP levels showed a significant increase in response to upright posture test, though lower than the increase observed in normal women. In contrast, saline infusion test determined a significant increase in plasma ANP levels only in control subjects. In women with hypothalamic amenorrhea, the altered response of CGRP and ANP to adaptive stimuli indicates a partial derangement in the control of the secretion of these cardiovascular hormones. Nevertheless, the differences between such modifications and those observed in other conditions of altered estrogenic levels, suggest that in amenorrheic women hypogonadism is not the major factor influencing CGRP and ANP response to adaptive stimuli.
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PMID:Hypothalamic amenorrhea and cardiovascular hormones: changes of plasma calcitonin gene-related peptide and atrial natriuretic peptide levels. 962

Natriuretic peptides, which are important regulators of salt handling and blood pressure, are 60%-75% higher in healthy young women than in men, consistent with a gender dimorphism. In this randomized, placebo-controlled study in women with functional hypothalamic amenorrhea, we show that administration of oral contraceptives (OC) increases natriuretic peptide levels and that end-of-study free T levels are inversely associated with amino-terminal pro-B-type natriuretic peptide levels, consistent with the hypothesis that natriuretic peptide levels may be mediated by differences in gonadal steroid concentrations-estrogens (E) or androgens.
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PMID:Effects of oral contraceptives on natriuretic peptide levels in women with hypothalamic amenorrhea: a pilot study. 2162 Mar 95


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