HIPOSPADIA SUBKORONAL PADA PASIEN SINDROM KLINEFELTER ANAK

Rezia Octarina, Tjahjo Djojo Tanojo, Rina Yudiwati

Abstract


Sindrom Klinfelter merupakan kelainan kromosom seks yang banyak ditemukan pada laki-laki. Sindrom Klinefelter umumnya muncul pada masa pubertas dan dewasa dengan ciri khasnya: infertilitas, testis kecil, ginekomastia dan mikropenis. Anak-anak dengan Sindrom Klinefelter dapat memiliki manifestasi klinis mikropenis, hipospadia, kriptorkismus atau keterlambatan perkembangan. Namun, hipospadia merupakan manifestasi klinis yang jarang ditemukan pada sindrom ini. Pada laporan kasus ini, kami melaporkan  satu kasus seorang anak laki-laki yang memiliki hipospadia dan disertai kelainan kromosom 47, XXY. Laporan kasus ini menggambarkan Sindrom Klinefelter pada anak-anak dengan manifestasi klinis hipospadia, skrotum bifidum, kriptorkismus dan DSD di mana hal ini merupakan manifestasi klinis yang jarang ditemui pada kelainan ini.

 


Keywords


Sindrom Klinefelter, hipospadia, kriptorkismus, karyotyping

Full Text:

PDF

References


Zinn AR, Ramos P, Elder FF, Kowal K, Samango-Sprouse C, Ross JL. Androgen Receptor CAG n Repeat Length Influences Phenotype of 47,XXY (Klinefelter) Syndrome. The Journal of Clinical Endocrinology & Metabolism. 2005 Sep;90(9):5041–6

Ross JL, Samango-Sprouse C, Lahlou N, Kowal K, Elder FF, Zinn A. Early Androgen Deficiency in Infants and Young Boys with 47,XXY Klinefelter Syndrome. Horm Res Paediatr. 2005;64(1):39–45

Hodhod A, Umurangwa F, El-Sherbiny M. Pre-pubertal diagnosis of Klinefelter syndrome due to peno-scrotal malformations; Case report and review of literature. CUAJ. 2015 May 13;9(5–6):333

Swaminathan S, Gorla S, Barbouth D. Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia. J Pediatr Genet. 2017 Jan 3;06(02):115–7

Brito VN, Berger K, Mendonca BB. Male hypogonadism: childhood diagnosis and future therapies. Pediatric Health. 2010 Oct;4(5):539–55

Brandes BM, Mesrobian H-GO. Evaluation and management of genital anomalies in two patients with Klinefelter syndrome and review of literature. Urology. 2005 May;65(5):976–9

Frühmesser A, Kotzot D. Chromosomal Variants in Klinefelter Syndrome. Sex Dev. 2011;5(3):109–23

Kanakis GA, Nieschlag E. Klinefelter syndrome: more than hypogonadism. Metabolism. 2018 Sep;86:135–44

Lahlou N, Fennoy I, Ross JL, Bouvattier C, Roger M. Clinical and hormonal status of infants with nonmosaic XXY karyotype: Infants with XXY karyotype. Acta Paediatrica. 2011 Jun;100(6):824–9

Wikström AM, Dunkel L. Klinefelter syndrome. Best Practice & Research Clinical Endocrinology & Metabolism. 2011 Apr;25(2):239–50

Das C, Sahana P, Sengupta N, Roy M, Dasgupta R. Unusual presentation of Klinefelter syndrome. Indian J Endocr Metab. 2013;17(9):683

Lee YS, Cheng AWF, Ahmed SF, Shaw NJ, Hughes IA. Genital Anomalies in Klinefelter’s Syndrome. Horm Res Paediatr. 2007;68(3):150–5

Pacenza N, Pasqualini T, Gottlieb S, Knoblovits P, Costanzo PR, Stewart Usher J, et al. Clinical Presentation of Klinefelter’s Syndrome: Differences According to Age. International Journal of Endocrinology. 2012;2012:1–6

Shih EM, Graham JM. Review of genetic and environmental factors leading to hypospadias. European Journal of Medical Genetics. 2014 Aug;57(8):453–63

Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A. Klinefelter Syndrome—A Clinical Update. The Journal of Clinical Endocrinology & Metabolism. 2013 Jan;98(1):20–30

Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nat Rev Urol. 2007 Apr;4(4):192–204

Keays MA, Sumit D. Current hypospadias management: Diagnosis, surgical management and long-term patient-centered outcomes. Can Urol Assoc J 2017;11(1-2Suppl1):S48-53. http://dx.doi.org/10.5489/cuaj.4386




DOI: http://dx.doi.org/10.30872/jkm.v7i1.3860

Refbacks

  • There are currently no refbacks.


Copyright (c) 2020 Jurnal Kedokteran Mulawarman

Creative Commons License
Jurnal Kedokteran Mulawarman by Faculty of Medicine Mulawarman University is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.