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      Congenital Hypogonadotrophic Hypogonadism: Minipuberty and the Case for Neonatal Diagnosis

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          Abstract

          Congenital hypogonadotrophic hypogonadism (CHH) is a rare but important etiology of pubertal failure and infertility, resulting from impaired gonadotrophin-releasing hormone secretion or action. Despite the availability of effective hormonal therapies, the majority of men with CHH experience unsatisfactory outcomes, including chronic psychosocial and reproductive sequelae. Early detection and timely interventions are crucial to address the gaps in medical care and improve the outlook for these patients. In this paper, we review the clinical implications of missing minipuberty in CHH and therapeutic strategies that can modify the course of disease, as well as explore a targeted approach to identifying affected male infants by integrating clinical and biochemical data in the early postnatal months.

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          Most cited references64

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          Prevalence of olfactory dysfunction: the skövde population-based study.

          Patients with olfactory dysfunction appear repeatedly in ear, nose, and throat practices, but the prevalence of such problems in the general adult population is not known. Therefore, the objectives were to investigate the prevalence of olfactory dysfunction in an adult Swedish population and to relate dysfunction to age, gender, diabetes mellitus, nasal polyps, and smoking habits. Cross-sectional, population-based epidemiological study. A random sample of 1900 adult inhabitants, who were stratified for age and gender, was drawn from the municipal population register of Skövde, Sweden. Subjects were called to clinical visits that included questions about olfaction, diabetes, and smoking habits. Examination was performed with a smell identification test and nasal endoscopy. In all, 1387 volunteers (73% of the sample) were investigated. The overall prevalence of olfactory dysfunction was 19.1%, composed of 13.3% with hyposmia and 5.8% with anosmia. A logistic regression analysis showed a significant relationship between impaired olfaction and aging, male gender, and nasal polyps, but not diabetes or smoking. In an analysis of a group composed entirely of individuals with anosmia, diabetes mellitus and nasal polyps were found to be risk factors, and gender and smoking were not. The sample size of the population-based study was adequate, with a good fit to the entire population, which suggests that it was representative for the Swedish population. Prevalence data for various types of olfactory dysfunction could be given with reasonable precision, and suggested risk factors analyzed. The lack of a statistically significant relationship between olfactory dysfunction and smoking may be controversial.
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            Clinical practice. Delayed puberty.

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              Evaluation and treatment of cryptorchidism: AUA guideline.

              Cryptorchidism is one of the most common pediatric disorders of the male endocrine glands and the most common genital disorder identified at birth. This guideline is intended to provide physicians and non-physician providers (primary care and specialists) with a consensus of principles and treatment plans for the management of cryptorchidism (typically isolated non-syndromic).
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                Author and article information

                Contributors
                Journal
                Front Endocrinol (Lausanne)
                Front Endocrinol (Lausanne)
                Front. Endocrinol.
                Frontiers in Endocrinology
                Frontiers Media S.A.
                1664-2392
                21 February 2019
                2019
                : 10
                : 97
                Affiliations
                [1] 1Department of Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust , Newcastle upon Tyne, United Kingdom
                [2] 2Department of Endocrinology, Singapore General Hospital , Singapore, Singapore
                [3] 3Institute of Genetic Medicine, University of Newcastle upon Tyne , Newcastle upon Tyne, United Kingdom
                Author notes

                Edited by: Ranjith Ramasamy, University of Miami, United States

                Reviewed by: Sasha Howard, Queen Mary University of London, United Kingdom; Nannan Thirumavalavan, Baylor College of Medicine, United States

                *Correspondence: Du Soon Swee swee.du.soon@ 123456singhealth.com.sg

                This article was submitted to Reproduction, a section of the journal Frontiers in Endocrinology

                Article
                10.3389/fendo.2019.00097
                6393341
                30846970
                9907993d-c64b-468f-919f-8e77f53877e3
                Copyright © 2019 Swee and Quinton.

                This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

                History
                : 30 November 2018
                : 01 February 2019
                Page count
                Figures: 0, Tables: 1, Equations: 0, References: 77, Pages: 9, Words: 7751
                Categories
                Endocrinology
                Review

                Endocrinology & Diabetes
                congenital hypogonadotropic hypogonadism,kallmann syndrome,puberty delay,minipuberty of infancy,infertility–male,cryptorchidism,gonadotrophin releasing hormone deficiency

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