Partial gonadal dysgenesis (XY)
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Keywords

disorders of sexual development
partial gonadal dysgenesis
gonadal karyotype

How to Cite

Vargas-Uricoechea, H. ., & Vargas-Sierra, H. D. . (2022). Partial gonadal dysgenesis (XY). Revista Colombiana De Endocrinología, Diabetes &Amp; Metabolismo, 8(4). https://doi.org/10.53853/encr.8.4.716

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.

https://doi.org/10.53853/encr.8.4.716
PDF (Español (España))

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