Acta Pediátrica Española

ISSN 2014-2986

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  • Num_publicacion 78(3-4)
  • Resumen_ingles

    Complete gonadal dysgenesis 46 XY (46, XY CGD) is a disorder of sexual development. It is characterized by 46 XY karyotype, normal female external genitalia, presence of Müllerian structures, and undeveloped gonads. It is a rare syndrome, in which patients have normal female phenotype, with normal or increased height, diagnosed by delayed pubertal or primary amenorrhea. The majority of patients with 46, XY CGD show a normal SRY gene. In gonadal dysgenesis associated with the presence of a Y chromosome there is a marked risk of gonadal tumors, especially after puberty. Gonadoblastoma is the most frequent tumor. It has a high risk of malignancy towards dysgerminoma.
    We present the case of a girl who consulted at age 8 years for short stature. On physical exam, the patient presented normal female phenotype, female external genitalia, with Tanner stage 1. Weight: 21,6 kg (sds -1,43); height: 115,4 cm (sds -3,1). Laboratory tests revealed stimulation test with HCG, did not show testosterone response, antimüllerian hormone <1 pmol/L. Karyotype in peripheral blood showed 46 XY. Genetic analysis of the SRY gene was extended and no deletions were detected. Abdominal MRI showed a normal vagina, hypoplastic uterus and confirmed the absence of gonads. Exploratory laparoscopy was performed. The anatomopathological analysis confirmed the presence of pure bilateral ovarian gonadoblastoma. Thus, the diagnosis of 46, XY CGD was confirmed. The novelty of this case lies in the rarity of the pathology as well as the clinical picture. Diagnosis before puberty as well as short stature are rare in the context of 46, XY CGD.

  • Palabras_clave_ingles Gonadal dysgenesis gene SRY gonadoblastoma
  • Todos_autores A. Domínguez García, Y. Novoa Medina, S. López López
  • autores listados A. Domínguez García, Y. Novoa Medina, S. López López
  • Titulo_ingles Complete gonadal dysgenesis 46 XY: atypical form with short stature
  • Centros_trabajo Unidad de Endocrinología Pediátrica. Complejo Hospitalario Universitario Insular-Materno Infantil. Las Palmas de Gran Canaria
  • Publicado en Acta Pediatr Esp. 2020; 78(3-4): e114-e117
  • copyright ©2020 Ediciones Mayo, S.A.
  • Tipo de Artículo Clínico (Microdatos) Case Reports
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