Article Review: The Disorders of Sex Development (DSD) According to the Type of Gonad Found in the Patient
DOI:
https://doi.org/10.55544/sjmars.3.5.3Keywords:
Sexual development disorders (DSD), Gonad type, Abnormalities, Gonadal development, Androgen synthesis, Sex determination, Sex differentiation, Undifferentiated dipotent gonads, Congenital abnormalities, Anatomic sexAbstract
Sexual development disorders (DSD) are categorized based on the patient's gonad type (ovary, testicle, or ovary). abnormalities of gonadal development and abnormalities of androgen synthesis or action are currently recognized etiologies and are classified as Mendelian. Sex determination and sex differentiation are the two successive stages of human sexual development. The expression of gene networks that guide the development of undifferentiated dipotent gonads into testes or ovaries is referred to as "sex determination." Throughout fetal development and adulthood, the testicles and ovaries release hormones that encourage additional gender differentiation in the body. DSD is caused by mutations found in the genes that regulate both steps. A comprehensive history, physical examination, and appropriate diagnostic testing are needed to determine the underlying etiology.
Congenital abnormalities known as disorders of sex development occur when chromosomal, gonadal, or anatomic sex development is abnormal. A substantial public health burden is associated with DSD, a group of chronic medical diseases that collectively afflict approximately 1% of the population and often necessitate lifetime care from numerous experts. Certain life-threatening conditions, like adrenal crises in congenital adrenal hyperplasia, are linked to DSD. Infertility, cancer, gender dysphoria, psychosocial suffering, and widespread obstacles to health-related quality of life for patients and their families are all linked to DSD.
A condition known as ambiguous genitalia occurs when it is difficult to determine a person's sex by their outward appearance. Males with ambiguous features and hypovirilization (micropenis, II absence of scrotal fusion, incomplete testicular descent, hypospadia) or females with ambiguous features and virilization (clitoromegaly, labio-scrotal fusion) are among the possible genital presentations.
The family history, clinical assessment and evaluation, karyotype inquiry, imaging, and molecular testing are crucial in the workup of a newborn with ambiguous genitalia. Serum gonadotropins (LH, FSH), androgens and androgen precursors (17-hydroxypregnenolone, 17hydroxyprogesterone, androstenedione, testosterone, and dihydrotestosterone), adrenal steroids (cortisol, aldosterone, and their precursors), and Müllerian inhibiting substance (MIS) are among the detailed hormone studies that are recommended.
References
Achermann, J. C.; Eugster, E. A. and Shulman, D. I. (2011). Ambiguous genitalia. Journal of Clinical Endocrinology and Metabolism, 96(3): 33a–34a.
Bergadá I.; Milani, C.; Bedecarrás, P.; Andreone, L.; Ropelato, M.G., et al. (2006). Time course of the serum gonadotropin surge, inhibins, and anti-Müllerian hormone in normal newborn males during the first month of life. Journal of Clinical Endocrinology and Metabolism. 91: 4092–4098.
Bonnie McCann-Crosby, Ambiguous Genitalia (2017). Evaluation and Management in the Newborn, available at; http://neoreviews. aappublications.org/
Bouvattier, C.; Carel, J.C.; Lecointre, C., et al. (2002). Postnatal changes of T, LH, and FSH in 46, XY infants with mutations in the AR gene. Journal of Clinical Endocrinology and Metabolism.87: 29–32.
Bulun, S. E. (2014). Aromatase deficiency. Fertility and Sterility, 101(2): 323–329.
Grinspon, R. P. and Rey, R.A. (2014). When hormone defects cannot explain it: malformative disorders of sex development. Birth Defects Research; 102: 359–373.
Hughes, I. A.; Houk, C.; Ahmed, S.F. and Lee, P. A. (2006). Lwpes/Espe Consensus Group Consensus statement on management of intersex disorders. Archives of Disease in Childhood, 91:554-563.
Kamal, M.; Chellani, H. and Arya, S. (2016). Approach towards a Neonate with Ambiguous Genitalia, 15(12).available from; https://www.researchgate.net/publication/303403616_Approach_towards_a_Neonate_with_Ambiguous_Genitalia
Kate Davies RN (Child), London South Bank University. (2016). The London School of Medicine, London, UK http://dx.doi.org/10.1016 /j.pedn.
Krishnan, S. and Wisniewski, A. B. (2015). Ambiguous Genitalia in the newborn.Availableat;https://www.ncbi.nlm.nih.gov/books/NBK279168/.
Kyriakou, et al., (2015). Disorders of sex development: advances in genetic diagnosis and challenges in management Advances in Genomics and Genetics, 165–177.available from; https://www.dovepress. com/ disorders-of-sex-development-advances-in-genetic-diagnosis-and-challen-peer-reviewed-article-AGG
Lee, P.A., et al. (2016). Global Disorders of Sex Development: Perceptions, Approach and Care. Hormone Research in Paediatrics. 85:158-180.
Michala, L.; Liao, L. M.; Wood, D., et al. (2014). Practice changes in childhood surgery for ambiguous genitalia? Journal of Pediatric Urology, 10: 934–939.
Migeon, C.J.; Wisniewski, A.B.; Gearhart, J. P., et al. (2002). Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals: Long-term medical, surgical and psychosexual outcome. Pediatrics, 110:e31.available from; https://www.ncbi.nlm.nih. gov/pubmed /12205281
Moshiri, M., et al. (2012). Evaluation and Management of Disorders of Sex Development: Multidisciplinary Approach to a Complex Diagnosis. Radiological society of North America. 1559-1617
Nistal, M.; Paniagua, R.; Gonzalez-Peramato, P., et al. (2015). Ovotesticular DSD (true hermaphroditism). Pediatric and developmental pathology.18: 345-352.
Nordenvall, A. S.; Frisen, L.; Nordenstrom, A.; Lichtenstein, P. and Norenskjold, A. (2014). Population based nationwide study of hypospadias in Sweden, 1973 to 2009: incidence and risk factors. Journal of Urology; 191: 783-789.
Pang, S.Y.; Wallace, M.A.; Hofman, L.; Thuline, H.C., et al. (1988). Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics, 81:866-874.
Radetti, G.; Mazzanti, L.; Paganini, C., et al. (1995). Frequency, clinical and laboratory features of thyroiditis in girls with Turner’s syndrome. The Italian Study Group for Turner’s syndrome. Acta Paediatrica 84:909–912.
Skakkebaek, N.E.; Meyts, R-D. and Main, K. M. (2001): Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects. Human Reproduction; 16: 972-978.
Stephure, D.K. (2005). The Canadian Growth Hormone Advisory Committee Impact of growth hormone supplementation on adult height in turner syndrome: results of the Canadian randomized controlled trial. Journal of Clinical Endocrinology & Metabolism 90:3360 –3366
Thyen, U.; Lanz, K.; Holterhus, P.M. and Hiort, O. (2006). Epidemiology and initial management of ambiguous genitalia at birth in Germany. Hormone Research. 66: 195-203.
Tomlinson, C.; Macintyre, H.; Dorrian, C. A.; Ahmed, S. F. and Wallace, A. M. (2004). Testosterone measurements in early infancy. Archives of Disease in Childhood. Fetal and Neonatal Edition.89: F558–F559.
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