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      Prader–Willi Syndrome and Hypogonadism: A Review Article

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          Abstract

          Prader-Labhart-Willi syndrome (PWS) is a rare genetic disorder characterized by intellectual disability, behavioural problems, hypothalamic dysfunction and specific dysmorphisms. Hypothalamic dysfunction causes dysregulation of energy balance and endocrine deficiencies, including hypogonadism. Although hypogonadism is prevalent in males and females with PWS, knowledge about this condition is limited. In this review, we outline the current knowledge on the clinical, biochemical, genetic and histological features of hypogonadism in PWS and its treatment. This was based on current literature and the proceedings and outcomes of the International PWS annual conference held in November 2019. We also present our expert opinion regarding the diagnosis, treatment, care and counselling of children and adults with PWS-associated hypogonadism. Finally, we highlight additional areas of interest related to this topic and make recommendations for future studies.

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          Most cited references49

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          Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.

          Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by the deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), which is the master hormone regulating the reproductive axis. CHH is clinically and genetically heterogeneous, with >25 different causal genes identified to date. Clinically, the disorder is characterized by an absence of puberty and infertility. The association of CHH with a defective sense of smell (anosmia or hyposmia), which is found in ∼50% of patients with CHH is termed Kallmann syndrome and results from incomplete embryonic migration of GnRH-synthesizing neurons. CHH can be challenging to diagnose, particularly when attempting to differentiate it from constitutional delay of puberty. A timely diagnosis and treatment to induce puberty can be beneficial for sexual, bone and metabolic health, and might help minimize some of the psychological effects of CHH. In most cases, fertility can be induced using specialized treatment regimens and several predictors of outcome have been identified. Patients typically require lifelong treatment, yet ∼10-20% of patients exhibit a spontaneous recovery of reproductive function. This Consensus Statement summarizes approaches for the diagnosis and treatment of CHH and discusses important unanswered questions in the field.
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            Clinical Management of Congenital Hypogonadotropic Hypogonadism

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              Prader-Willi syndrome: consensus diagnostic criteria.

              The diagnosis of Prader-Willi syndrome (PWS) is based on clinical findings that change with age. Hypotonia is prominent in infancy. Obesity, mild mental retardation or learning disability, and behavior problems, especially in association with food and eating, result in a debilitating physical and developmental disability in adolescence and adulthood. No consistent biological marker is yet available for PWS in spite of recent research activity in cytogenetics and molecular genetics. Diagnostic criteria for PWS were developed by consensus of seven clinicians experienced with the syndrome in consultation with national and international experts. Two scoring systems are provided: one for children aged 0 to 36 months and another one for children aged 3 years to adults. These criteria will aid in recognition of the syndrome in hypotonic infants and in obese, mildly retarded, behaviorally disturbed adolescents and adults. They will also ensure uniform diagnosis for future clinical and laboratory research in PWS.
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                Author and article information

                Contributors
                Role: Academic Editor
                Journal
                Int J Mol Sci
                Int J Mol Sci
                ijms
                International Journal of Molecular Sciences
                MDPI
                1422-0067
                08 March 2021
                March 2021
                : 22
                : 5
                : 2705
                Affiliations
                [1 ]Centre for Paediatric Endocrinology Zurich (PEZZ), 8006 Zurich, Switzerland; urs.eiholzer@ 123456pezz.ch
                [2 ]Department of Pediatrics, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands
                [3 ]Department of Endocrinology, Karolinska University Hospital, 111 52 Stockholm, Sweden; charlotte.hoybye@ 123456sll.se
                [4 ]Department of Molecular Medicine and Surgery, Karolinska Institute, 171 76 Stockholm, Sweden
                Author notes
                [* ]Correspondence: kees.noordam@ 123456pezz.ch
                Author information
                https://orcid.org/0000-0001-9735-5921
                Article
                ijms-22-02705
                10.3390/ijms22052705
                7962179
                33800122
                3fad6df4-a4bd-4ef5-bdce-9bd42b495bad
                © 2021 by the authors.

                Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ( http://creativecommons.org/licenses/by/4.0/).

                History
                : 04 February 2021
                : 04 March 2021
                Categories
                Review

                Molecular biology
                prader-willi syndrome,hypogonadism,child,adult,review,diagnosis,treatment,substitution
                Molecular biology
                prader-willi syndrome, hypogonadism, child, adult, review, diagnosis, treatment, substitution

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