The frequency of late-onset 21-hydroxylase and 11 beta-hydroxylase deficiency in women with polycystic ovary syndrome

Şahin, Yılmaz; Keleştimur, Fahrettin

doi:10.1530/eje.0.1370670

Cited by 43 publications

(4 citation statements)

References 45 publications

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“…NC-CAH due to 21-OHD is one of the most frequent causes of hyperandrogenemia in the Turkish population [29]. The close relationship between hyperandrogenemia and hyperinsulinemia is a well-known phenomenon.…”

Section: Discussionmentioning

confidence: 99%

Hyperinsulinemia and Insulin Insensitivity in Women with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: The Relationship between Serum Leptin Levels and Chronic Hyperinsulinemia

2005

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Background/Aim: Nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NC-CAH) is associated with hyperandrogenemia, chronic anovulation, hirsutism, acne and adrenal hyperplasia. A few studies have shown hyperinsulinemia and insulin insensitivity in NC-CAH. Hyperinsulinemia can stimulate leptin secretion, and androgens can inhibit leptin secretion. Thus, we designed a study to investigate the insulin levels and insulin sensitivity and the effect of chronic endogenous hyperinsulinemia and androgens on leptin in patients with NC-CAH. Methods: Eighteen women with untreated NC-CAH and 26 normally cycling control women with a similar body mass index (BMI) were studied. Basal hormones, fasted and fed insulin levels, leptin and stimulated 17-hydroxyprogesterone (17-OHP) concentrations were studied. Homeostasis model assessment was used to assess insulin sensitivity. Results: The basal 17-OHP, the free testosterone (fT) and dehydroepiandrosterone sulfate (DHEA-S) were significantly different in the 2 groups (p < 0.05). Fasting and fed insulin levels of the NC-CAH group were higher than those of the control group (p < 0.05) and insulin sensitivity was lower in NC-CAH than in controls (p < 0.05). Insulin levels were correlated with fT and 17-OHP (p < 0.05). Serum leptin levels for NC-CAH (25.9 ± 12.5 µg/l) did not differ from the controls (25.4 ± 12.06 µg/l) and were positively correlated with BMI (r = 0.725) and percent body fat (r = 0.710) for both groups (both p < 0.001). Leptin levels were not correlated with estrogen or androgens, gonadotropins or insulin levels. Conclusion: Hyperinsulinemia and insulin insensitivity associated with hyperandrogenism were detected in untreated NC-CAH patients as in previous reports, whereas serum leptin levels did not differ from those of controls.

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Section: Discussionmentioning

confidence: 99%

Hyperinsulinemia and Insulin Insensitivity in Women with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: The Relationship between Serum Leptin Levels and Chronic Hyperinsulinemia

2005

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“…Therefore, it has several limitations, especially regarding the number of subjects studied and also use of single method, the ACTH stimulation test, as a screening tool. The prevalence of NCAH is relatively high among females with hirsutism or polycyctic ovary syndrome (7,(15)(16)(17)(18)(19)(20), however there is no data about the frequency of mutation carriers in Turkish healthy population. On the other hand, screening methods based on basal 17-OH-P levels have limitations, and some patients with less than suggested 17-OH-P concentration of 2 ng/mL may have >10 ng/mL values after ACTH stimulation, similar to one of the AS patients in the study group (21,22).…”

Section: Discussionmentioning

confidence: 99%

The Role of 21-Hydroxylase Deficiency in the Pathogenesis of Behçet Disease

Gül¹,

Gül²,

İnanç³

et al. 2018

İstanbul Tıp Fakültesi Dergisi

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Objective: Acne-like skin lesions and more severe disease course in males suggest a role for sex hormones in the pathogenesis of Behçet disease (BD). HLA-B51 is the main genetic susceptibility factor for BD, and CYP21A2 gene responsible for most of congenital adrenal hyperplasia (CAH) is located within the MHC locus on chromosome 6p21.3. We aimed to investigate the possible role of 21-hydroxylase deficiency in linkage disequilibrium with HLA-B51 and causing androgen excess. Materials and Methods: We studied 18 healthy controls, 29 BD patients and 15 patients with ankylosing spondylitis (AS). All subjects underwent ACTH stimulation test. Basal and stimulated serum cortisol and 17-OH-progesterone (17-OH-P) levels and basal dehydroepiandrosterone sulfate (DHEA-S), total testosterone and sex hormone binding globulin (SHBG) levels were measured. Results: According to current guidelines, we accepted 10 ng/mL as the cutoff point for 17-OH-P to define non-classic CAH (NCAH). After ACTH stimulation 3 of BD patients (10.3%) and 5 AS patients (33.3%) had high 17-OH-P concentrations. Those individuals were considered as NCAH or possible carriers for CAH mutations. Three out of 8 BD patients with prominent acne were identified as NCAH biochemically. Mean total testosterone levels of BD patients were significantly lower than those of healthy controls, however these levels were normal in BD patients with high 17-OH-P. Conclusion: This preliminary work documented high 17-OH-P levels following ACTH stimulation in a subset of BD and AS patients, and genetic studies are necessary to investigate the role of 21-hydroxylase deficiency in association with HLA-B alleles in their pathogenesis.

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“…25 In addition, it was also useful for the differential diagnosis of non-classical forms of CAH, which may not be distinguishable by clinical presentation. [25][26][27] Compared to MS profiling combined with chromatographic separation, matrix-assisted laser desorption ionization (MALDI)-MS has the advantage of high sample throughput, making it attractive for clinical applications. In addition, it has been successfully applied to measure 10 adrenal steroids, including 17-OHP, in the serum of CAH patients.…”

Section: Metabolic Enzymes Associated With Cahmentioning

confidence: 99%

Diagnostic Evaluation of Enzyme Activity Related to Steroid Metabolism by Mass Spectrometry-Based Steroid Profiling

Choi¹,

Chung²

2014

Mass Spectrometry Letters

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Gas chromatography-mass spectrometry (GC-MS) methods have been used extensively in clinical steroid analyses. Evaluating the metabolic ratios of precursors to products by accurate quantification of individual steroid levels in biological samples can reveal the activities of enzymes associated with steroid metabolism. This review article discusses the impact of GC-MS-based steroid profiling on our understanding of the biochemical role of steroids and their metabolic enzymes in hormonedependent diseases, such as congenital adrenal hyperplasia (CAH), cortisol-mediated hypertension, apparent mineralocorticoid excess (AME), male-pattern baldness, and breast and thyroid cancers. Steroid profiling is a comprehensive analytical technique that can be applied whenever the highest specificity is required and may be a reasonable initial diagnostic approach.

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The frequency of late-onset 21-hydroxylase and 11 beta-hydroxylase deficiency in women with polycystic ovary syndrome

Cited by 43 publications

References 45 publications

Hyperinsulinemia and Insulin Insensitivity in Women with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: The Relationship between Serum Leptin Levels and Chronic Hyperinsulinemia

Hyperinsulinemia and Insulin Insensitivity in Women with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: The Relationship between Serum Leptin Levels and Chronic Hyperinsulinemia

The Role of 21-Hydroxylase Deficiency in the Pathogenesis of Behçet Disease

Diagnostic Evaluation of Enzyme Activity Related to Steroid Metabolism by Mass Spectrometry-Based Steroid Profiling

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