Keywords
partial gonadal dysgenesis
gonadal karyotype
How to Cite
Abstract
Introduction: Disorders of sexual development are defined as congenital conditions in which the development of anatomical or gonadal chromosomal sex is atypical. They are rare abnormalities, occurring in 1 in 1,000 to 4,500 live births. Among the most common causes
are congenital adrenal hyperplasia due to 21 - hydroxylase deficiency in an XX person,
mosaicisms such as that involving 45, X/46, XY that have a broad phenotypic spectrum,
and androgen insensitivity syndrome in an XY person. The rarest causes include XY gonadal dysgenesis due to genetic mutations (NR5A1, WT1, or MAP3K1), 17-beta-hydroxysteroid dehydrogenase deficiency, and 5-alpha reductase deficiency.
Purpose: The objective of this case report is to emphasize the risk of malignant germ cell Tumors in patients with XY gonadal dysgenesis.
Case presentation: The case of a 24-year-old patient, phenotypically female and 46 XY karyotype. Total abdominal tomography reported absence of internal female genitalia. Under the preoperative suspicion of XY gonadal dysgenesis, diagnostic laparoscopy was performed, finding atrophic testes in inguinal channels, which were removed. The characteristics of the
physical examination, the clinical and therapeutic approach are described.
Discussion and conclusion: Patients with XY gonadal dysgenesis may have an increased risk of gonadal tumors. In order to make the diagnosis of this entity, a multidisciplinary approach must be carried out that allows it´s exact classification.
References
Françoise Paris, Laura Gaspari, Pascal Philibert, Laurent Maïmoun, Nicolas Kalfa, Charles Sultan. Disorders of Sex Development: Neonatal Diagnosis and Management. Endocr Dev. Basel, Karger, 2012, vol 22, pp 56–71.
Ganka Douglas, Marni E. Axelrad, Mary L. Brandt, Elizabeth Crabtree, Jennifer E. Dietrich, Shannon French, et al. Consensus in Guidelines for Evaluation of DSD by the Texas Children’s Hospital Multidisciplinary Gender Medicine Team. International Journal of Pediatric Endocrinology Volume 2010, Article ID 919707, 17 pages doi:10.1155/2010/919707.
I A Hughes, C Houk, S F Ahmed, P A Lee. Consensus statement on management of intersex disorders. Arch Dis Child. 2006, Jul; 91 (7): 554 – 63.
Ieuan A. Hughes, C. Nihoul-Fékété, B. Thomas, P.T. Cohen-Kettenis. Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development. Best Practice & Research Clinical Endocrinology & Metabolism Vol. 21, No. 3, pp. 351–365, 2007.
Ute Thyen, Kathrin Lanz, Paul-Martin Holterhus, Olaf Hiort. Epidemiology and Initial Management of Ambiguous Genitalia at Birth in Germany. Horm Res 2006; 66:195–203 DOI: 10.1159/000094782.
Jay J. Schnitzer, MD, PhD, and Patricia K. Donahoe, MD. Surgical treatment of congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 2001 Mar; 30 (1): 137 – 54.
Gizem Ürel Demir, Özlem Akgün Do?an, Pelin Özlem ?im?ek Kiper, Gülen Eda Utine, Koray Boduro?lu, Safak Gucer. Coexistence of Trisomy 13 and SRY (?) XX Ovotesticular Disorder of Sex Development. Fetal Pediatr Pathol. 2017 Dec; 36 (6): 445 – 451.
Ono M, Harley VR. Disorders of sexual development: new genes, new concepts. Nat Rev Endocrinol. 2013; 9 (2): 79-91.
Arboleda VA, Samdberg DE, Vilain E. DSDs: genetics, underling, pathologies and psychosexual differentiation. Nat Rev Endocrinol. 2014; 10 (10): 615.
Nistal M, Paniagua R, González-Peramato P, Reyes-Múgica M. Gonadal Dysgenesis. Pediatr Dev Pathol. 2014 (8): 15-24.
The Practice Committee of the American Society for Reproductive Medicine. Current evaluation of amenorrhea. Current evaluation of amenorrhea. (2006). Fertility and Sterility, 86(5), S148–S155.
Margarita Cueto Callejón, Eva de Diego Rivera, Manuela López López, Pilar Miranda Serrano. Disgenesia gonadal parcial XY. Diagnóstico en edad adulta. Prog Obstet Ginecol. 2011; 54(11):596 – 600.
Paris F, Philibert P, Lumbroso S, Baldet P, Charvet JP, Galifer RB, et al. Primary amenorrhea in a 46, XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation. Fertil Steril. 2007; 88:1437.
Ganka Douglas, Marni E. Axelrad, Mary L. Brandt, Elizabeth Crabtree, Jennifer E. Dietrich, Shannon French, et al. Consensus in Guidelines for Evaluation of DSD by the Texas Children’s Hospital Multidisciplinary Gender Medicine Team. International Journal of Pediatric Endocrinology Volume 2010, Article ID 919707, 17 pages.
Frader J, Alderson P, Asch A, et al. Health care professionals and intersex conditions. Arch Pediatr Adolesc Med. 2004; 158: 426–429.
Cummings AM, Kavlock RJ. Function of sexual glands and mechanisms of sex differentiation. J Toxicol Sci. 2004; 29(3):167–178.
Justine Schober, Anna Nordenström, Piet Hoebeke, Peter Lee, Christopher Houk, Leendert Looijenga, et al. Disorders of sex development: Summaries of long-term outcome studies. Journal of Pediatric Urology, (2012) 8, 616–623.
Warne GL. Long-term outcome of disorders of sex development. Sex Dev 2008; 2(4e5):268e77.
S. Faisal Ahmed, Martina Rodie. Investigation and initial management of ambiguous genitalia. Best Practice & Research Clinical Endocrinology & Metabolism 24 (2010) 197–218.
Nabhan ZM & Lee PA. Disorders of sex development. Current Opinion in Obstetrics & Gynecology 2007; 19: 440–445.
David T. MacLaughlin, Patricia K. Donahoe. Sex Determination and Differentiation. N Engl J Med 2004; 350:367-78.
Olaf Hiort, Wiebke Birnbaum, Louise Marshall, Lutz Wünsch, Ralf Werner, Tatjana Schröder, et al. Management of disorders of sex development. Nat. Rev. Endocrinol. 2014, Sep; 10, 520–529.
Nistal M, Paniagua R, González-Peramato P, Reyes-Múgica M. Gonadal Dysgenesis. Pediatr Dev Pathol. 2014 (8): 15-24.
Verkauskas G and cols. Diagnosis and Management of mixed gonadal dysgenesis and disorders of sexual differentiation. Med. 2009; 45(5): 357- 364.
Paris F, Philibert P, Lumbroso S, Baldet P, Charvet JP, Galifer RB, et al. Primary amenorrhea in a 46, XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation. Fertil Steril. 2007; 88:1437.
José Landaeta, Ricardo Valdivieso, María E Rincón, Indira Durán. Disgenesia gonadal mixta. Revista de la Facultad de Ciencias de la Salud. Universidad de Carabobo. 2015 Vol. 19 N° 1: pág. 1 – 5.
Landaeta JE, Lara EJ. Diagnóstico y tratamiento de la amenorrea primaria en adolescentes. A propósito de tres casos clínicos. Salus 2011; 15(1): 34-37.
León, N. Y. Reyes, A. P. & Harley, V. R. (2019). A clinical algorithm to diagnose differences of sex development. The Lancet Diabetes & Endocrinology, 7(7), 560–574. doi:10.1016/s2213-8587(18)30339-5.
Hiort, O. Birnbaum, W. Marshall, L. Wünsch, L. Werner, R. Schröder, T. Holterhus, P.-M. (2014). Management of disorders of sex development. Nature Reviews Endocrinology, 10(9), 520–529. doi:10.1038/nrendo.2014.108.
Hsu, L. Y. F. (1994). Phenotype/Karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. American Journal of Medical Genetics, 53(2), 108–140. doi:10.1002/ajmg.1320530204.
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.