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Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche


, : Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche. European Journal of Endocrinology 165(2): 307-314

Premature pubarche (PP) is the most frequent sign of nonclassic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency in childhood. The aim of this study was to assess the relationship between the CYP21A2 genotype and baseline and ACTH-stimulated 17-hydroxyprogesterone (17-OHP) and cortisol serum levels in patients presenting with PP. and methodsA total of 152 Italian children with PP were studied. Baseline and ACTH-stimulated 17-OHP and cortisol serum levels were measured and CYP21A2 gene was genotyped in all subjects. Baseline and ACTH-stimulated serum 17-OHP levels were significantly higher in NCCAH patients than in both heterozygotes and children with idiopathic PP (IPP). Of the patient population, four NCCAH patients (7.3%) exhibited baseline 17-OHP values <2 ng/ml (6 nmol/l). An ACTH-stimulated 17-OHP cutoff level of 14 ng/ml (42 nmol/l) identified by the receiver-operating characteristics curves showed the best sensitivity (9.9%) and specificity (1%) in distinguishing NCCAH patients. This value, while correctly identifying all unaffected children, missed 9% of affected individuals. Cortisol response to ACTH stimulation was <18.2 µg/dl (5 nmol/l) in 14 NCCAH patients (28%) and none of the heterozygotes or IPP children. Among the 55 NCCAH patients, 54.5% were homozygous for mild CYP21A2 mutations, 41.8% were compound heterozygotes for one mild and one severe CYP21A2 gene mutations, and 3.6% had two severe CYP21A2 gene mutations. In children with PP, baseline 17-OHP levels are not useful to rule out the diagnosis of NCCAH, which is accomplished by means of ACTH testing only. The different percentages of severe and mild CYP21A2 gene mutations found in PP children compared with adult NCCAH patients is an indirect evidence that the enzyme defect is under-diagnosed in childhood, and it might not lead to the development of hyperandrogenic symptoms in adulthood. Stress-dose glucocorticoids should be considered in patients with suboptimal cortisol response to ACTH stimulation.

US$19.90

PMID: 21646284

DOI: 10.1530/EJE-11-0119


Other references

Yip, C.S.P.; Koong, H.N.; Loo, C.M.; Fong, K.W., 2012: Malignant pleural mesothelioma in Singapore. To examine the clinical characteristics and outcomes of malignant pleural mesothelioma (MPM) in Singapore. A retrospective case note review of patients diagnosed with MPM between 1997 and 2007. Overall survival (OS), locoregional recurrence-free s...

Marchionatto, J.B., 1934: Some entomogenous Fungi common in Argentina and the Possibilities of their Application to Agriculture. Fungi found infesting insects in Argentina were: Beauveria globuli-fera on the larvae of Meroleuca (Dirphia) lauta, Berg, Oeceticus geyeri, Berg, and Phytometra (Plusia) nu, Gn. (infections of P. nu, Colias lesbia, F., and Schistocerca paranensis,...

Goedhals, L.; Vorobiof, D.A.; Bezwoda, W.; Van Merwe, A.; Jordaan, J.P.; Barnardt, P.; Smith, B.L., 2000: Phase II trial of i.v. vinorelbine and cisplatin in inoperable locally advanced or disseminated non-small-cell lung cancer: the South African experience. This multicentre phase II trial was conducted in South Africa to evaluate the activity of a combination of vinorelbine, administered in a new schedule, and cisplatin, in chemonaive patients with advanced non-small-cell lung cancer (NSCLC). Between...

Ganiats, T.G., 1991: Cost-effectiveness concepts and the CE plane. Medical Decision Making 11(2): 147-147

Mutlu, Z.; Wu, R.J.; Wickramaratne, D.; Shahrezaei, S.; Liu, C.; Temiz, S.; Patalano, A.; Ozkan, M.; Lake, R.K.; Mkhoyan, K.A.; Ozkan, C.S., 2016: Phase Engineering of 2D Tin Sulfides. Tin sulfides can exist in a variety of phases and polytypes due to the different oxidation states of Sn. A subset of these phases and polytypes take the form of layered 2D structures that give rise to a wide host of electronic and optical properti...

Datta, S.; Sarkar, S.; Chakraborty, S.; Mulpuru, S.Krishna.; Basu, S.; Tiwary, B.K.; Chakrabarti, N.; Roy, P.Kumar., 2016: MRI characterization of temporal lobe epilepsy using rapidly measurable spatial indices with hemisphere asymmetries and gender features. The paucity of morphometric markers for hemispheric asymmetries and gender variations in hippocampi and amygdalae in temporal lobe epilepsy (TLE) calls for better characterization of TLE by finding more useful prognostic MRI parameter(s). T1-weigh...

Hoegl, L.; Thoma-Greber, E.; Röcken, M.; Korting, H.C., 1998: Persistent oral candidosis by non-albicans Candida strains including Candida glabrata in a human immunodeficiency virus-infected patient observed over a period of 6 years. A 38-year-old woman infected with human immunodeficiency virus (HIV) presented with persistent oral candidosis in which non-albicans Candida strains were the predominant yeasts in most of the examinations performed over a period of 6 years. Oral t...

Meyer, C.; Hinrichs, W.; Hahn, U., 2012: Human α2-macroglobulin--another variation on the venus flytrap. Angewandte Chemie 51(21): 5045-5047

Censarek, P.; Steger, G.; Paolini, C.; Hohlfeld, T.; Grosser, T.; Zimmermann, N.; Fleckenstein, D.; Schrör, K.; Weber, A-Aron., 2007: Alternative splicing of platelet cyclooxygenase-2 mRNA in patients after coronary artery bypass grafting. Recently, we cloned from platelet mRNA a novel cyclooxygenase (COX)-2 splice variant, designated COX-2a, which is characterized by a partial deletion of exon 5. Preliminary studies of mRNA distribution of COX-2 isoforms in platelets from coronary...

Bailey, W.H.; Casteel, W.J.; Syvret, R.G., 2002: Improvements in the fluorination of 1,3-dicarbonyl compounds. Abstracts of Papers American Chemical Society 224(1-2): FLUO 46