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      Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?

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          Abstract

          Background

          Neonatal screening for 21 hydroxylase deficiency is designed to detect classical form of congenital adrenal hyperplasia (CAH). It is still unclear whether newborns who result false positives at neonatal screening might later develop signs of androgen excess. The aim of this study is to verify whether a slightly elevated 17-OHP at newborn screening is a predictive factor for premature pubarche.

          Methods

          We evaluated all infants born between 2001 and 2014 with premature pubarche. In case of increased bone age, they were submitted to functional tests to find out the cause of their symptoms. Their 17-OHP values at newborn screening for CAH were reconsidered.

          Results

          We identified 330 patients (269 females, 61 males) with premature pubarche. All these children had a normal 17-OHP at newborn screening with the exception of a child, born preterm and not affected by CAH.

          Conclusions

          An elevated 17-OHP at newborn screening is not a predictive factor for premature pubarche. A likely cause of increased 17-OHP level at screening is an immaturity of adrenal gland or a neonatal stress. Therefore a strict follow up of these neonates during childhood is not necessary.

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          Most cited references43

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          Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

          More than 90% of cases of congenital adrenal hyperplasia (CAH, the inherited inability to synthesize cortisol) are caused by 21-hydroxylase deficiency. Females with severe, classic 21-hydroxylase deficiency are exposed to excess androgens prenatally and are born with virilized external genitalia. Most patients cannot synthesize sufficient aldosterone to maintain sodium balance and may develop potentially fatal "salt wasting" crises if not treated. The disease is caused by mutations in the CYP21 gene encoding the steroid 21-hydroxylase enzyme. More than 90% of these mutations result from intergenic recombinations between CYP21 and the closely linked CYP21P pseudogene. Approximately 20% are gene deletions due to unequal crossing over during meiosis, whereas the remainder are gene conversions--transfers to CYP21 of deleterious mutations normally present in CYP21P. The degree to which each mutation compromises enzymatic activity is strongly correlated with the clinical severity of the disease in patients carrying it. Prenatal diagnosis by direct mutation detection permits prenatal treatment of affected females to minimize genital virilization. Neonatal screening by hormonal methods identifies affected children before salt wasting crises develop, reducing mortality from this condition. Glucocorticoid and mineralocorticoid replacement are the mainstays of treatment, but more rational dosing and additional therapies are being developed.
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            Congenital adrenal hyperplasia.

            Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency. The severe classic form occurs in one in 15,000 births worldwide, and the mild non-classic form is a common cause of hyperandrogenism. Neonatal screening for CAH and gene-specific prenatal diagnosis are now possible. Standard hormone replacement fails to achieve normal growth and development for many children with CAH, and adults can experience iatrogenic Cushing's syndrome, hyperandrogenism, infertility, or the development of the metabolic syndrome. This Seminar reviews the epidemiology, genetics, pathophysiology, diagnosis, and management of CAH, and provides an overview of clinical challenges and future therapies.
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              Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology.

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                Author and article information

                Contributors
                +39 045 8127811 , paolocavarzere@yahoo.it
                Journal
                Ital J Pediatr
                Ital J Pediatr
                Italian Journal of Pediatrics
                BioMed Central (London )
                1824-7288
                16 January 2018
                16 January 2018
                2018
                : 44
                : 10
                Affiliations
                [1 ]ISNI 0000 0004 1756 948X, GRID grid.411475.2, Pediatric Division, Department of Pediatrics, , University Hospital of Verona, ; Verona, Italy
                [2 ]ISNI 0000 0004 1756 948X, GRID grid.411475.2, Department of Pediatrics, Neonatal Intensive Care Unit, , University Hospital of Verona, ; Verona, Italy
                [3 ]ISNI 0000 0004 1937 0351, GRID grid.11696.39, Department of Psychology and Cognitive Sciences, , University of Trento, ; Trento, Italy
                [4 ]ISNI 0000 0004 1763 1124, GRID grid.5611.3, Regional Center for the diagnosis and treatment of children and adolescents rare skeletal disorders, Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, , University of Verona, ; Verona, Italy
                Article
                444
                10.1186/s13052-018-0444-6
                5771218
                29338783
                e4cca04a-0552-488b-89a1-1a9a8de8fb1c
                © The Author(s). 2018

                Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                History
                : 13 September 2017
                : 2 January 2018
                Categories
                Research
                Custom metadata
                © The Author(s) 2018

                Pediatrics
                premature pubarche,17-ohp,newborn screening,congenital adrenal hyperplasia
                Pediatrics
                premature pubarche, 17-ohp, newborn screening, congenital adrenal hyperplasia

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