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      Acne in Klinefelter Syndrome-46XY/47XXY Mosaicism?

      case-report

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          Abstract

          Klinefelter syndrome (KFS) is the most common non-heritable sex chromosome anomaly caused by nondisjunction during cell division and contains two or more X chromosomes. More than two third of all cases are homogenous (47XXY) and the remaining are mosaic (46XY/47XXY). Lower limb ulcers are frequently observed and attributed to impaired fibrinolysis. A case of KFS with post acne scars and leg ulcers is presented. The rarity of acne in this syndrome is explained by the phenomenon of mosaicism.

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          Successful fertility treatment for Klinefelter's syndrome.

          Ranjith Ramasamy, Joseph A Ricci, Gianpiero D. Palermo … (2009)
          We examined preoperative factors that could predict successful microdissection testicular sperm extraction in men with azoospermia and nonmosaic Klinefelter's syndrome. We also analyzed the influence of preoperative hormonal therapy on the sperm retrieval rate. A total of 91 microdissection testicular sperm extraction attempts were done in 68 men with nonmosaic Klinefelter's syndrome. Men with serum testosterone less than 300 ng/dl received medical therapy with aromatase inhibitors, clomiphene or human chorionic gonadotropin before microdissection testicular sperm extraction. Preoperative factors of patient age and endocrinological data were compared in those in whom the procedure was and was not successful. The sperm retrieval rate was the main outcome. Clinical pregnancy (pregnancy with heartbeat) and the live birth rate were also calculated. Testicular spermatozoa were successfully retrieved in 45 men (66%), representing 62 (68%) attempts. Increasing male age was associated with a trend toward a lower sperm retrieval rate (p = 0.05). The various types of preoperative hormonal therapies did not have different sperm retrieval rates but men with normal baseline testosterone had the best sperm retrieval rate of 86%. Patients who required medical therapy and responded to that treatment with a resultant testosterone of 250 ng/dl or higher had a higher sperm retrieval rate than men in whom posttreatment testosterone was less than 250 ng/dl (77% vs 55%). For in vitro fertilization attempts in which sperm were retrieved the clinical pregnancy and live birth rates were 57% and 45%, respectively. Microdissection testicular sperm extraction is an effective sperm retrieval technique in men with Klinefelter's syndrome. Men with hypogonadism who respond to medical therapy may have a better chance of sperm retrieval.
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            Hidden mosaicism in patients with Klinefelter's syndrome: implications for genetic reproductive counselling.

            L Bassas, Z Sarrate, Juan Blanco … (2011)
            Most individuals with Klinefelter's syndrome (KS) are azoospermic but residual foci of spermatogenesis have been observed in some patients. However, no consistent predictive factors for testicular sperm extraction success have been established and mosaicism could be a factor to investigate. In this study, we have assessed the degree of mosaicism in somatic and germinal tissues in KS, the meiotic competence of 47,XXY germ cells and the aneuploidy rate of post-reductional cells. Five patients with KS previously diagnosed as pure 47,XXY have been studied. Samples from four donors were processed as controls. The chromosome constitution of lymphocytes, buccal mucosa and testicular tissue was assessed by interphase fluorescence in situ hybridization for chromosomes X, Y and 18. In meiotic figures, sex chromosome number and pairing was confirmed. 46,XY cell lines were observed in all patients and tissues analysed. The degree of mosaicism (mean ± SD) differed among tissues (lowest in lymphocytes: 4.8 ± 2.5%; highest in Sertoli cells: 42.3 ± 11.1%). Meiotic figures were found in three cases (KS1, KS2 and KS5), all of them showed an XY complement. Hyperhaploid post-reductional cells were found in all patients (range: 3.3-36.4%) and increased rates versus controls (P< 0.05) were observed. Diagnosis of homogeneous KS based on lymphocyte karyotyping should be contrasted in other tissues. Mucosa cells could help to better approximate the degree of germ cell mosaicism. Our results indicate that 47,XXY germ cells are not meiotically competent. Increased post-reductional aneuploidy rate is related to meiotic errors in 46,XY cells. Appropriate genetic counselling is recommended in KS.
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              Leg ulcers associated with Klinefelter's syndrome: a case report and review of the literature.

              Victoria Shanmugam, Katina Tsagaris, Christopher Attinger (2012)
              We present the case of a young man with type II diabetes, stage III chronic kidney disease, hypertension, obstructive sleep apnea and diabetes who presented to the Georgetown University Hospital Center for Wound Healing with refractory lower extremity ulcers. Autoimmune work-up was negative. However, chromosome analysis showed a genetic variant of Klinefelter's syndrome (48 XXYY). Lower extremity ulceration is a recognised complication of Klinefelter's syndrome. The pathogenesis of ulcers in this endocrinopathy is unclear, but associations with abnormalities of fibrinolysis and prothrombotic states are reported. This case emphasises the importance of considering Klinefelter's syndrome in the differential diagnosis of a sterile male patient with non healing lower extremity ulcers.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Indian J Dermatol
                Journal ID (iso-abbrev): Indian J Dermatol
                Journal ID (publisher-id): IJD
                Title: Indian Journal of Dermatology
                Publisher: Medknow Publications & Media Pvt Ltd (India )
                ISSN (Print): 0019-5154
                ISSN (Electronic): 1998-3611
                Publication date (Print): Sep-Oct 2015
                Volume: 60
                Issue: 5
                Pages: 494-496
                Affiliations
                [1] From the Department of Dermatology, PSG Hospitals and PSG Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu, India
                Author notes
                Address for correspondence: Dr. Lakshmi Chembolli, Department of Dermatology, PSG Hospitals and PSG Institute of Medical Sciences and Research, Coimbatore - 641 004, Tamil Nadu, India. E-mail: cl_coimbatore@ 123456yahoo.co.in
                Article
                Publisher ID: IJD-60-494
                DOI: 10.4103/0019-5154.164373
                PMC ID: 4601420
                PubMed ID: 26538700
                SO-VID: 5fcbbb5d-888d-4f38-a93c-5427238cd326
                Copyright © Copyright: © Indian Journal of Dermatology
                License:

                This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

                History
                Date received : October 2014
                Date accepted : March 2015
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Dermatology
                Keywords: acne,klinefelter syndrome,mosaicism
                Data availability:
                ScienceOpen disciplines: Dermatology
                Keywords: acne, klinefelter syndrome, mosaicism

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