Evidence for a Single Gene Effect Causing Polycystic Ovaries and Male Pattern Baldness

Carey, Adam; Chan, Kakit; Short, Frances; White, Davinia; Williamson, Robert

doi:10.1097/00006254-199311000-00020

Cited by 31 publications

(40 citation statements)

References 16 publications

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“…Nevertheless, if PCOS does have a genetic component, then males must carry the susceptibility genes as well. In males from families with PCOS, an increase in the prevalence of premature male-pattern balding has led investigators to suggest that premature malepattern baldness is the male phenotype of the disease [23,44,45]. However, no evidence of hyperandrogenaemia has been established in PCOS brothers or fathers with premature male-pattern balding.…”

Section: Discussionmentioning

confidence: 99%

“…This has been investigated in several studies on PCOS phenotypes in different populations [17] and in family studies which indicated that a high number of female relatives are affected [18,19,20,21]. Most of these studies have used ovarian morphology [22,23] and endocrine abnormalities such as hyperandrogenaemia and anovulation to assign affected status [24]. However, the antecedents of metabolic disorders in family members of PCOS patients has not been widely studied.…”

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confidence: 99%

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Prevalence of Type II diabetes mellitus and insulin resistance in parents of women with polycystic ovary syndrome

Sir-Petermann¹,

Ángel

Maliqueo

et al. 2002

Diabetologia

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Aims/hypothesis. Insulin resistance with increased risk of Type II (non-insulin-dependent) diabetes is a common feature of polycystic ovary syndrome (PCOS). To investigate antecedents of metabolic disorders in family members of patients with PCOS, we evaluated glucose tolerance and insulin resistance in parents of patients with PCOS compared to parents of healthy women. Methods. A total of 200 parents of women with clinical and hormonal evidence of PCOS (PCOSp) and 120 parents of healthy normally cycling women (HWp) were studied. A 75-g OGGT was performed and subjects were classified according to the World Health Organization (WHO) criteria (1999). Serum glucose and insulin were measured before the glucose load and 30, 60 and 120 min after. C-peptide and sex hormone-binding globulin were also determined before the glucose load. Insulin resistance was assessed by HOMA model and ISI composite.Results. The prevalence of Type II diabetes was 1.89-(1.06-3.38)-fold higher in PCOSp compared to HWp. Insulin resistance, evaluated by HOMA IR and ISI composite was also significantly higher in the PCOSp group compared to the HWp group. After both study groups were distributed by sex, and adjusted by age and BMI, the metabolic parameters were still significantly different between PCOSp and HWp. Conclusions/interpretation. The data suggest that parents of PCOS women exhibit insulin resistance and Type II diabetes more frequently than those of healthy women, thus constituting a high-risk group but an ideal cohort to detect and prevent the development of Type II diabetes. [Diabetologia (2002) 45:959-964] Keywords Type II diabetes, polycystic ovary syndrome, insulin resistance, family study.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Prevalence of Type II diabetes mellitus and insulin resistance in parents of women with polycystic ovary syndrome

Sir-Petermann¹,

Ángel

Maliqueo

et al. 2002

Diabetologia

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“…38 There is also evidence for heritability of endocrine and metabolic features of PCOS. 36,39 The mode of inheritance remains unclear; 35,37,40 an autosomal dominant disorder has been proposed, suggesting a single gene effect 41,42 but the more likely proposition is that PCOS is a complex endocrine disorder involving more than one, and probably several, genes. 35,43,44 The search for candidate genes in PCOS has so far yielded few positive results.…”

Section: Introductionmentioning

confidence: 99%

Polycystic ovary syndrome in adolescents

2008

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Background: Polycystic ovary syndrome (PCOS) is the commonest endocrine disorder in women and typically presents during adolescence. The clinical and biochemical presentation is heterogeneous, but elevated serum concentrations of androgens are the most consistent biochemical abnormality and may be considered to be the hallmark of the syndrome. Many women with PCOS also have insulin resistance and hyperinsulinaemia, which may contribute to the clinical and endocrine abnormalities. The aetiology of PCOS is not clear but studies in the Rhesus monkey suggest that exposure to excess androgen during intrauterine life results in many of the features of human PCOS, including ovarian dysfunction, abnormal LH secretion and insulin resistance. Objective: To review the studies from the literature, including those of the author, regarding aetiology, presentation and management of PCOS in adolescents. Results and conclusions: We have proposed that PCOS in adolescents arises as a result of a genetically determined disorder of ovarian function that results in hyper-secretion of androgens, possibly during fetal life and also during physiological activation of the hypothalamic-pituitary-ovarian in infancy and at the onset of puberty. There is plentiful evidence for a genetic basis for PCOS (it appears to be a complex endocrine disorder resulting from the effects of a several genes), but environmental factors, notably nutrition, influence the clinical and biochemical phenotype. Obesity unmasks or amplifies symptoms, endocrine and metabolic abnormalities. The increasing incidence of childhood obesity has resulted in an alarming Increase not only in distressing symptoms but also impaired glucose tolerance and even diabetes among adolescent girls with PCOS. The search for PCOS genes in this condition, that is not only heterogeneous but also presents only in women of reproductive age, is not straightforward and has produced few convincing candidates so far. In due course, however, identification of the major susceptibility loci is likely to provide key insight into the aetiology of the syndrome and improve diagnosis and management.

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“…However, little is known about PCOS genetics and studies have thus far been hindered by the lack of a male phenotype. Some studies have found increased risk of premature male pattern baldness in PCOS families [14][15][16][17], but a large study did not confirm this risk [18].…”

Section: Introductionmentioning

confidence: 99%

Brothers of women with polycystic ovary syndrome are characterised by impaired glucose tolerance, reduced insulin sensitivity and related metabolic defects

Baillargeon

Carpentier

2007

Diabetologia

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Aims/hypothesis Since it has been shown that polycystic ovary syndrome (PCOS) is highly inherited and characterised by insulin resistance, we hypothesised that male siblings of PCOS women would also be insulin resistant. Thus, our aim was to assess insulin sensitivity and metabolic parameters in brothers of women with PCOS and male control individuals. Methods Seventeen brothers of PCOS women and 28 male control volunteers were assessed with 75 g OGTTs and euglycaemic-hyperinsulinaemic clamps. PCOS index women were identified using criteria developed at the 1990 National Institutes of Health conference. Results Brothers and control individuals were similar in terms of BMI, waist circumference, percentage body fat and BP. However, brothers had increased triacylglycerol (p=0.02), plasminogen activator inhibitor-1 (PAI-1; p=0.02), factor VIII (p=0.02), 2 h glucose (p<0.001), AUC glucose (p<0.001) and AUC insulin (p<0.001). Insulin sensitivity was reduced by 38% in brothers (p<0.001), and this was primarily due to a 65% decrease in insulin-stimulated non-oxidative carbohydrate metabolism (p<0.001). These differences remained significant after adjustment for age and BMI, except for triacylglycerol, PAI-1 and fasting glucose. The main findings also persisted after excluding individuals with impaired glucose tolerance or diabetic siblings. Significant interactions with BMI status were found for sex hormone-binding globulin, androstenedione, PAI-1 and AUC insulin , which were significantly altered only in obese brothers (vs control individuals). Conclusions/interpretation Brothers of PCOS women are characterised by decreased insulin sensitivity and glucose tolerance, as well as hypercoagulability, independently of obesity. Therefore, brothers of PCOS women may have inherited the insulin resistance and metabolic syndrome typical of PCOS.

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Evidence for a Single Gene Effect Causing Polycystic Ovaries and Male Pattern Baldness

Cited by 31 publications

References 16 publications

Prevalence of Type II diabetes mellitus and insulin resistance in parents of women with polycystic ovary syndrome

Prevalence of Type II diabetes mellitus and insulin resistance in parents of women with polycystic ovary syndrome

Polycystic ovary syndrome in adolescents

Brothers of women with polycystic ovary syndrome are characterised by impaired glucose tolerance, reduced insulin sensitivity and related metabolic defects

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