Gene/Protein Disease Symptom Drug Enzyme Compound
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Women with many medical conditions need to plan their families with special care. For such women, the risk of complications with particular contraceptive methods is increased. Women with severe hypertension, a previous myocardial infarction or venous thromboembolism, or cerebrovascular stroke have a significant risk of problems in pregnancy, and should avoid the combined pill. The combined pill may increase the risk of cardiovascular disease in patients with diabetes mellitus and may worsen the severity of migrainous headaches in susceptible patients. Women with active hepatitis should wait for liver function tests to normalise before becoming pregnant or starting the combined pill or injectable progestogen. Control of epilepsy may deteriorate with use of the combined pill; this is probably because of the risk of drug interactions. Similarly, contraceptive control may also fail in women receiving rifampicin (rifampin) concurrently with contraceptive steroids. Intrauterine contraceptive devices should not be used in women who have experienced previous episodes of pelvic inflammatory disease, or with previous malignancy of the genital tract until complete cure is likely. Other conditions which may appear, become more common or worsen when the combined pill is prescribed include hepatic adenoma, gall bladder disease, ulcerative colitis, alopecia, hirsutism and acne. Some of these conditions are potentially hazardous to the woman's health, in which case combined pill use should be stopped. If the condition is unchanged then the combined pill may sometimes be reintroduced with caution.
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PMID:Contraceptive choice for women with 'risk factors'. 848 Dec 14

There exists a growing body of evidence in women that links androgen excess to increases in cardiovascular disease and reproductive site neoplasia. Ten to fifteen percent of women exhibit clinical signs and symptoms of hyperandrogenism wherein more extensive evaluation is warranted. Women with adult acne, android-type obesity, and alopecia often have been treated for cosmetic reasons without regard to the underlying pathophysiology. Adverse changes in insulin resistance, lipids, and apoproteins favor earlier progression of diabetes for some patients and an unfavorable cardiovascular risk profile for most. Patients with polycystic ovarian syndrome (PCOS) often present to different health providers with different complaints that include excessive facial hair, obesity, hypertension, impaired glucose tolerance, dysfunctional uterine bleeding, or infertility. First-line treatment options, after excluding ovarian or adrenal tumors, include use of non-androgenic OCs until pregnancy is desired. Early identification of patients allows for use of risk-reduction strategies, which may affect clinical outcomes.
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PMID:Androgen excess in women. 882 97

Although an individual assessment of the risks and benefits is always essential, combined, low-dose oral contraceptives (OCs) are an effective method of fertility control, even for women with chronic medical problems. In addition to contraception, therapeutic uses of combined OCs include acne, anovulatory uterine bleeding, control of bleeding with blood dyscrasias, dysmenorrhea, endometriosis, hirsutism, hypothalamic amenorrhea, ovarian hormone replacement, polycystic ovarian syndrome, premenstrual syndrome, and recurrent functional ovarian cysts. This article presents guidelines for clinicians on the selection of combined OC users, counseling, contraindications, and management of adverse effects. It further outlines general considerations for the prescription of combined OCs to women with hypertension, diabetes mellitus, migraine headaches, and epilepsy.
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PMID:Combination oral contraceptives. 917 54

We report the case of a 28-year-old woman attending for hirsutism and diabetes mellitus. Diabetes was a casual finding 2 years before consulting and was treated with diet and antidiabetic drugs. Acromegalic appearance, facial acne, penty, curled and rude hair, hypertrichosis, ade I diffuse goitre, prominent abdomen with umbilical hernia, severe hepatomegaly, prominent muscles and veins with normal genitalia appeared in the physical examination. No other abnormalities were found. Hypophysis, thyroid, suprarenal and ovaric hormonal functional studies were normal. An insulin-resistant diabetes mellitus was found in the metabolic study. Ultrasound and TAC showed severe diffuse hepatomegaly and visceral fat lack. Bone radiographies showed diffuse lesions compatible with polyostotic dysplasia. Subcutaneous, hepatic and bone biopsy revealed lack of fat tissue, hepatic steatosis and osteal fibrosis. Patient s diagnosis was Berardinelli-Seip syndrome, Seip-Lawrence or lipoatrophic diabetes associated with polyostotic fibrotic dysplasia. Case is studies and bibliographic references are reviewed.
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PMID:[Seip-Lawrence syndrome associated with polyostotic fibrous dysplasia. Report of a case]. 923 83

Since oral isotretinoin (Roaccutane/Accutane) is the only therapy to address all major acne causes, it remains the most effective antiacne therapy available. Due to this unique efficacy and its potential side effects that are predictable and can be managed easily and effectively, it is widely used also in acne patients suffering from serious systemic diseases. As the primary mechanism of action of oral isotretinoin is suppression of sebaceous gland activity, mucocutaneous side effects such as dry lips, nasal passages and eyes are predictable. Pretreatment counseling and concomitant use of moisturizing agents usually manage these side effects effectively; in unusual cases of particularly poor tolerability, dose adjustments suffice. Severe side effects are rare, the most common being aches and pains requiring no therapy, aspirin or paracetamol. As with other retinoids, reliable contraception is mandatory for women of childbearing potential. Acne patients with serious concomitant systemic disease, such as insulin-dependent diabetes, epilepsy or spina bifida, transplant patients, patients with renal failure, multiple sclerosis motor neuron disease and other can also safe be treated with a standard cumulative dose of 120 mg/kg per treatment course.
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PMID:How safe is oral isotretinoin? 931 Jul 42

Women with polycystic ovary syndrome come to the gynecologist with a variety of symptoms, including menstrual irregularities, hirsutism, acne, weight gain, obesity, and infertility. An accurate diagnosis requires both confirmation of signs and symptoms of polycystic ovary syndrome and exclusion of other disorders. Once the diagnosis of polycystic ovary syndrome has been established, the presence of concomitant conditions, such as hypertension, dyslipidemia, and diabetes, must be assessed. Because the cause of polycystic ovary syndrome is not clear, treatment options have focused on symptom management. Such treatment options include oral contraceptives, gonadotropin-releasing hormone analogs with "add-back" hormone regimens, antiandrogens, ovulation-inducing agents, electrolysis, nutritional and weight loss counseling, exercise, laparoscopic ovarian drilling, and glucocorticoids. Pathogenic considerations, risk factor assessments, and treatment objectives combine to determine the choice of therapies. It is not clear whether insulin resistance is clinically important or causal in polycystic ovary syndrome symptom complex in all affected women. Polycystic ovary syndrome may be the final common expression of a variety of metabolic or neuroendocrine perturbations. If insulin resistance is a universal feature, it would make sense to treat with an insulin-sensitizing agent in the expectation that symptoms would resolve or improve. If insulin resistance is not the main etiologic factor, however, then insulin-sensitizing agents would be useful as adjunctive agents only for women with clinically important insulin resistance (eg, patients with polycystic ovary syndrome in whom insulin resistance causes hyperglycemia). In such cases an insulin-sensitizing agent could be instituted along with a program of weight loss and exercise.
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PMID:The obstetrician-gynecologist's role in the practical management of polycystic ovary syndrome. 985 17

Polycystic ovary syndrome is a diagnosis made in 5%-10% of women between late adolescence and the menopause. Patients may present with oligomenorrhoea or amenorrhoea, anovulation or infertility, hirsutism or acne. Women with the syndrome have at least seven times the risk of myocardial infarction and ischaemic heart disease of other women, and by the age of 40 years up to 40% will have type 2 diabetes or impaired glucose tolerance. Polycystic ovary syndrome is associated with insulin resistance, with consequent hyperinsulinaemia and (frequently) hyperlipidaemia and obesity. Recent research has shown that the application of diabetes management techniques aimed at reducing insulin resistance and hyperinsulinaemia (such as weight reduction and the administration of oral hypoglycaemic agents) can not only reverse testosterone and luteinising hormone abnormalities and infertility, but can also improve glucose, insulin and lipid profiles. The management of polycystic ovary syndrome should now include patient education and attention to diabetes and cardiovascular risk factors such as hyperlipidaemia, obesity, physical exercise, glucose intolerance, hypertension and cigarette smoking.
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PMID:Polycystic ovary syndrome: a new direction in treatment. 986 12

Skin diseases such as acne are sometimes thought of as unimportant, even trivial, when compared with diseases of other organ systems. To address this point directly, validated generic questionnaires were used to assess morbidity in acne patients and compare it with morbidity in patients with other chronic diseases. For 111 acne patients referred to a dermatologist, quality of life was measured using the Dermatology Life Quality Index, Rosenberg's measure of self-esteem, a version of the General Health Questionnaire (GHQ-28) and the Short Form 36 (SF-36). Clinical severity was measured using the Leeds Acne Grade. Population quality of life data for the SF-36 instrument were available from a random sample of adult local residents (n = 9334) some of whom reported a variety of long-standing disabling diseases. All quality of life instruments showed substantial deficits for acne patients that correlated with each other but not with clinically assessed acne severity. The acne patients (a relatively severely affected group) reported levels of social, psychological and emotional problems that were as great as those reported by patients with chronic disabling asthma, epilepsy, diabetes, back pain or arthritis. Acne is not a trivial disease in comparison with other chronic conditions. This should be recognized in the allocation of health care resources.
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PMID:The quality of life in acne: a comparison with general medical conditions using generic questionnaires. 1023 19

Many adolescents present with hirsutism and irregular menses. The challenge for the clinician is to distinguish physiologic anovulatory cycles from true menstrual disorders such as PCOS, and to differentiate PCOS from other causes of hyperandrogenism in hirsute adolescents. Common clinical features seen in adolescents with PCOS include hirsutism, acne, menstrual irregularity, and obesity. Biochemical abnormalities include hyperandrogenism, acyclic estrogen production, LH hypersecretion, decreased levels of SHBG, and hyperinsulinemia. Management strategies for a patient with PCOS include treatment of features which may cause distress to the adolescent, such as hirsutism, acne, and irregular menses, and prevention of long-term sequelae. Oral contraceptive pills, antiandrogens, and cosmetic treatments are used to treat hirsutism, acne, and menstrual irregularity. Oral contraceptive pills or medroxyprogesterone acetate are given to prevent endometrial hyperplasia and carcinoma. Counseling about weight loss and nutrition are essential, as weight loss may improve signs of hyperandrogenism and menstrual irregularity and may prevent NIDDM and cardiovascular disease. Insulin-sensitizing agents show promise in terms of decreasing hyperandrogenism, restoring ovulatory cycles, treating infertility, and preventing long-term sequelae. Finally, it is important to recognize that adolescents with PCOS may experience psychological distress because of the clinical manifestations of hyperandrogenism or when confronted with the information that they have a chronic illness. Psychological support should be available for these young women. Future research is likely to further elucidate the pathophysiology of PCOS, identify candidate genes, and clarify which adolescents are at risk for long-term sequelae. Prospective studies are needed to identify which therapies could potentially reduce the risk of infertility, diabetes, cardiovascular disease, and endometrial carcinoma in young women with PCOS.
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PMID:Polycystic ovary syndrome. 1037 Jul 13

Naturally occurring retinoids (vitamin A or retinol and its active metabolites) are vital for vision, controlling the differentiation program of epithelial cells in the digestive tract and respiratory system, skin, bone, the nervous system, the immune system, and for hematopoiesis. Retinoids are essential for growth, reproduction (conception and embryonic development), and resistance to and recovery from infection. The functions of retinoids in the embryo begin soon after conception and continue throughout the lifespan of all vertebrates. Both naturally occurring and synthetic retinoids are used in the therapy of various skin diseases, especially acne, for augmenting the treatment of diabetes, and as cancer chemopreventive agents. Retinol metabolites serve as ligands that activate specific transcription factors in the superfamily of steroid/retinoid/thyroid/vitamin D/orphan receptors and thereby control gene expression. Additionally, retinoids may also function through non-genomic actions. Various retinoid binding proteins serve as partners in retinoid function. These binding proteins show high specificity and affinity for specific retinoids and seem to control retinoid metabolism in vivo qualitatively and quantitatively by reducing 'free' retinoid concentrations, protecting retinoids from non-specific interactions, and chaperoning access of metabolic enzymes to retinoids. Implementation of the physiological effects of retinoids depends on the spatial-temporal expressions of binding proteins, receptors and metabolic enzymes. This review will discuss current understanding of the enzymes that catalyze retinol and retinoic acid metabolism and their unique and integral relationship to retinoid binding proteins.
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PMID:Interactions of retinoid binding proteins and enzymes in retinoid metabolism. 1052 99


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