Assessment of the 21-hydroxylase deficiency and the adrenal functions in young females with Turner syndrome
-
Asan Onder
,
Zehra Aycan
Abstract:
There are few reports of an association between Turner syndrome (TS) and 21-hydroxylase deficiency. However, this association is more frequent in some populations. The aim of this study was to evaluate the incidence of 21-hydroxylase deficiency in patients with TS in our population. 21-hydroxylase deficiency was evaluated in 44 TS cases with 45X (n=20) and 24 mosaic cases. A standard dose adrenocorticotropic (ACTH) stimulation test (Synacthen, Novartis, Basel, Switzerland) was performed, and 17 hydroxyprogesterone (17OHP), dehydroepiandrosterone sulfate (DHEAS) and cortisol responses were evaluated. Patients with increased 17OHP responses in the stimulation test also underwent 21-hydroxylase gene analysis. The mean age was 14.6±4 (2.6–22.4); 37 patients were on growth hormone (GH) treatment. Nine patients were at prepubertal stage, whereas 35 were pubertal (24 on gonadal steroids and 11 spontaneously). Six patients were obese. Only one of our patients had a level of 7.5 ng/mL of 17OHP, and there was no mutation found in congenital adrenal hyperplasia (CAH) genetic analysis. In other cases, peak 17OHP levels were ≤6 ng/mL. The mean peak 17OHP was 2.62±1.48 (1.19–7.5) ng/mL, the cortisol level was 37.6±8.43 (23.9–56.2) μg/dL and the DHEAS was 135.2±87.3 (15–413) μg/dL. The increased mean basal and peak cortisol levels (20.5±10.2 and 37.6±8.4 μg/dL) were remarkable findings. Whereas basal cortisol was above 20 μg/dL in 38.7% of patients, exaggerated results up to 56.2 μg/dL were obtained in peak cortisol levels. The basal and peak 17OHP cortisol levels were not correlated with the presence of puberty, chromosome structure, gonadal steroid use, obesity or growth hormone use. This trial suggested that 21-hydroxylase deficiency was not common among patients with TS in our population. Adrenal function should be assessed, at least in the presence of clitoral enlargement in patients with TS, particularly if their karyotype does not contain a Y chromosome.
©2012 by Walter de Gruyter Berlin Boston
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Artikel in diesem Heft
- Masthead
- Masthead
- Editorial
- Obesity, adolescence, and sleep deprivation
- Reviews
- 18F-DOPA positron emission tomography/computed tomography application in congenital hyperinsulinism
- Pathogenesis of propylthiouracil-related hepatotoxicity in children: present concepts
- Images in pediatric endocrinology
- Adhesion of the labia minora in girls: a common disorder that is rarely considered
- Original articles
- Thyroid nodules in children and adolescents: a single institution’s experience
- Effects of selenium supplementation in the early stage of autoimmune thyroiditis in childhood: an open-label pilot study
- Overestimation of final height prediction in patients with classical congenital adrenal hyperplasia using the Bayley and Pinneau method
- Is the growth outcome of children with idiopathic short stature and isolated growth hormone deficiency following treatment with growth hormone and a luteinizing hormone-releasing hormone agonist superior to that obtained by GH alone?
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- Association of vitamin D receptor gene Cdx2 polymorphism with bone markers in Turner syndrome patients
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- Relation among ghrelin, nutritional status, and immunity in children
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- Patient reports
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- Elevated α-fetoprotein levels in Van Wyk-Grumbach syndrome: a case report and review of literature
- Identification of LDLR mutations in two Chinese pedigrees with familial hypercholesterolemia
- Foster care and type 1 diabetes in the Bronx: a case series
- Primary hyperparathyroidism: fifth parathyroid intrathymic adenoma in a young patient
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