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      Prepubertal Idiopathic Unilateral Gynecomastia: Case Report and Literature Review

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          Abstract

          Introduction

          Gynecomastia is a benign proliferation of the glandular tissue of the breast in males. Depending on the age, it can be considered a physiological condition. Prepubertal unilateral gynecomastia is a rare phenomenon. There are only a few case reports described through the last few years.

          Case Presentation

          We report the clinical appearance and management of prepubertal idiopathic unilateral gynecomastia in a 9-year-old boy. We further include a literature review of 14 cases from 2011 to 2021. In contrast to pubertal gynecomastia, prepubertal gynecomastia and especially unilateral prepubertal gynecomastia are extremely rare conditions. Most cases remain idiopathic.

          Conclusion

          Chromosomal and genetic testing, as well as oncological, endocrine diagnostic and tests for liver and kidney function should be performed. In case of idiopathic prepubertal gynecomastia, surgery is an important part of therapy since patients suffer from their atypical and rare phenotype.

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          Most cited references40

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          Thyroid function and human reproductive health.

          Via its interaction in several pathways, normal thyroid function is important to maintain normal reproduction. In both genders, changes in SHBG and sex steroids are a consistent feature associated with hyper- and hypothyroidism and were already reported many years ago. Male reproduction is adversely affected by both thyrotoxicosis and hypothyroidism. Erectile abnormalities have been reported. Thyrotoxicosis induces abnormalities in sperm motility, whereas hypothyroidism is associated with abnormalities in sperm morphology; the latter normalize when euthyroidism is reached. In females, thyrotoxicosis and hypothyroidism can cause menstrual disturbances. Thyrotoxicosis is associated mainly with hypomenorrhea and polymenorrhea, whereas hypothyroidism is associated mainly with oligomenorrhea. Thyroid dysfunction has also been linked to reduced fertility. Controlled ovarian hyperstimulation leads to important increases in estradiol, which in turn may have an adverse effect on thyroid hormones and TSH. When autoimmune thyroid disease is present, the impact of controlled ovarian hyperstimulation may become more severe, depending on preexisting thyroid abnormalities. Autoimmune thyroid disease is present in 5-20% of unselected pregnant women. Isolated hypothyroxinemia has been described in approximately 2% of pregnancies, without serum TSH elevation and in the absence of thyroid autoantibodies. Overt hypothyroidism has been associated with increased rates of spontaneous abortion, premature delivery and/or low birth weight, fetal distress in labor, and perhaps gestation-induced hypertension and placental abruption. The links between such obstetrical complications and subclinical hypothyroidism are less evident. Thyrotoxicosis during pregnancy is due to Graves' disease and gestational transient thyrotoxicosis. All antithyroid drugs cross the placenta and may potentially affect fetal thyroid function.
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            Prepubertal gynecomastia linked to lavender and tea tree oils.

            Most cases of male prepubertal gynecomastia are classified as idiopathic. We investigated possible causes of gynecomastia in three prepubertal boys who were otherwise healthy and had normal serum concentrations of endogenous steroids. In all three boys, gynecomastia coincided with the topical application of products that contained lavender and tea tree oils. Gynecomastia resolved in each patient shortly after the use of products containing these oils was discontinued. Furthermore, studies in human cell lines indicated that the two oils had estrogenic and antiandrogenic activities. We conclude that repeated topical exposure to lavender and tea tree oils probably caused prepubertal gynecomastia in these boys. 2007 Massachusetts Medical Society
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              Klinefelter syndrome and other sex chromosomal aneuploidies

              The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births. The incidence of 49,XXXXY is 1 per 85,000 to 100,000 male births. In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY) to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in physical features tend to be associated with increasing numbers of sex chromosomes. If the diagnosis is not made prenatally, 47,XXY males may present with a variety of subtle clinical signs that are age-related. In infancy, males with 47,XXY may have chromosomal evaluations done for hypospadias, small phallus or cryptorchidism, developmental delay. The school-aged child may present with language delay, learning disabilities, or behavioral problems. The older child or adolescent may be discovered during an endocrine evaluation for delayed or incomplete pubertal development with eunuchoid body habitus, gynecomastia, and small testes. Adults are often evaluated for infertility or breast malignancy. Androgen replacement therapy should begin at puberty, around age 12 years, in increasing dosage sufficient to maintain age appropriate serum concentrations of testosterone, estradiol, follicle stimulating hormone (FSH), and luteinizing hormone (LH). The effects on physical and cognitive development increase with the number of extra Xs, and each extra X is associated with an intelligence quotient (IQ) decrease of approximately 15–16 points, with language most affected, particularly expressive language skills.
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                Author and article information

                Journal
                Breast Care (Basel)
                Breast Care (Basel)
                BRC
                Breast Care
                S. Karger AG (Allschwilerstrasse 10, P.O. Box · Postfach · Case postale, CH–4009, Basel, Switzerland · Schweiz · Suisse, Phone: +41 61 306 11 11, Fax: +41 61 306 12 34, karger@karger.com )
                1661-3791
                1661-3805
                December 2022
                17 May 2022
                1 December 2023
                : 17
                : 6
                : 573-579
                Affiliations
                [1] aDepartment of Obstetrics and Gynaecology, University Medical Centre Würzburg, Würzburg, Germany
                [2] bDepartment of Pediatrics, University Medical Centre Würzburg, Würzburg, Germany
                [3] cDepartment of Radiology, University Medical Centre Würzburg, Würzburg, Germany
                [4] dDepartment of Pathology, University Medical Centre Würzburg, Würzburg, Germany
                Author notes
                *Saskia-Laureen Herbert, herbert_s1@ 123456ukw.de
                Article
                brc-0017-0573
                10.1159/000525096
                9801404
                36590144
                d0ed14f7-5c9b-44bb-8243-3f4dcb4ec9f4
                Copyright © 2022 by The Author(s). Published by S. Karger AG, Basel

                This article is licensed under the Creative Commons Attribution 4.0 International License (CC BY). Usage, derivative works and distribution are permitted provided that proper credit is given to the author and the original publisher.

                History
                : 20 March 2022
                : 5 May 2022
                : 2022
                Page count
                Figures: 3, Tables: 1, References: 32, Pages: 7
                Funding
                The authors declare that no funds, grants, or other support were received during the preparation of this manuscript.
                Categories
                Novel Insights from Clinical Practice

                unilateral gynecomastia,surgery
                unilateral gynecomastia, surgery

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