Disorders of Sex Development Management, A Report of Single Centre Experience in Indonesia
Keywords:
Disorders of Sex Development, Multi Discipline Team, IndonesiaAbstract
Disorders of Sex Development (DSD) include a group of congenital conditions associated with atypical development of internal and external genital structures. Management of DSD is challenging especially if identified at later age, since the dilemma in gender alteration and decision creating a complexity of problems within the families. DSD management is problematic without specialized team management, these conditions are often unrecognized and their medical management is not considered to be a hospital priority. We established a Multi Discipline Team (MDT) at our centre, in collaboration with Dr. Kariadi provincial referral hospital and Faculty of Medicine Diponegoro University, for more than 2 decades with total of 1039 recruited patients. This MDT is the only team from our centre in Indonesia that manages DSD cases from basic laboratory examination including hormonal and genetic analysis as well as physical examination and psychological assessment. The MDT can play a critical role in creating an atmosphere of dedication to the health and welfare of children born with DSD, as well as to their families.
Downloads
References
Ahmed SF, Achermann JC, Arlt W, Balen A, Conway G, Edwards Z, et al. Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015). Clin Endocrinol (Oxf) 2016;84:771-88.
Arboleda VA, Sandberg DE, Vilain E. DSDs: genetics, underlying pathologies and psychosexual differentiation. Nat Rev Endocrinol 2014;10:603-15.
Arnold AP. A general theory of sexual differentiation. J Neurosci Res 2017;95:291-300.
Ayers KL, Bouty A, Robevska G, van den Bergen JA, Juniarto AZ, Listyasari NA, Sinclair AH and Faradz SMH. Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46, XY undervirilised boys. Human Genomics 2017; 11 (1): 1-10
Backhouse B, Hanna C, Robevska G, van den Bergen J, Pelosi E, Simons C, Koopman, Juniarto, Grover S, Faradz S, Sinclair A, Ayer K, Tan TY. Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches. Sex Dev 2019.
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, et al. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biol 2016;17:243.
Eggers S, Smith KR, Bahlo M, Looijenga LH, Drop SL, Juniarto ZA, et al. Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1. Eur J Hum Genet 2015;23:486-93.
Hiort O. Normal and Variant Sex Development. Principles of Gender-Specific Medicine, 2017:1-16.
Hughes IA, Houk CP, Ahmed SF. Consensus statement on management of intersex disorders. Archives of Disease in Childhood 2006;91:554-63.
Juniarto AZ, van der Zwan YG, Santosa A, Ariani MD, Eggers S, Hersmus R, et al. Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia. Clin Endocrinol (Oxf) 2016;85:247-57.
Kim SS, Lee RD, Lim KJ, Kwack SJ, Rhee GS, Seok JH, Lee GS, An BS, Jeung EB, Park KL Potential estrogenic and anti androgenic effects of permethrin in rats J Reprod Dev, 2005; 51(2):201-10.
Listyasari, Santosa A, Juniarto AZ, Faradz SMH. Multidisciplinary Management of Disorders of Sex Development in Indonesia, A Prototype for Developing Country Journal of Biomedicine and Translational Research 2017; 3 (1): 17-22.
Spoor JA, Oosterhuis JW, Hersmus R, Biermann K, Wolffenbuttel KP, Cools M, et al. Histological Assessment of Gonads in DSD: Relevance for Clinical Management. Sex Dev 2018;12:106-22.
Wolffenbuttel KP, Hersmus R, Stoop H, Biermann K, Hoebeke P, Cools M, et al. Gonadal dysgenesis in disorders of sex development: Diagnosis and surgical management. J Pediatr Urol 2016;12:411-6.
Downloads
Published
Issue
Section
License
Copyright (c) 2020 Malaysian Journal of Human Genetics
This work is licensed under a Creative Commons Attribution 4.0 International License.
