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Genital malformation: Trigger of the diagnosis of severe variants of Klinefelter syndrome. / Malformación genital: Disparador del diagnóstico de variantes severas de síndrome de Klinefelter.
Fadil Iturralde, José Luis; Marani, Jorge; Lahoz García, Martha; Carbognani, Silvia; Luccerini, Verónica; Damiani, Horacio Juan; Contardi, Juan Carlos.
Afiliação
  • Fadil Iturralde JL; Servicio de Urología Pediátrica, Sanatorio de Niños de Rosario, Argentina.
  • Marani J; Servicio de Urología Pediátrica, Sanatorio de Niños de Rosario, Argentina.
  • Lahoz García M; Servicio de Clínica Pediátrica, Sanatorio de Niños de Rosario, Argentina.
  • Carbognani S; Servicio de Genética Clínica, Sanatorio de Niños de Rosario, Argentina.
  • Luccerini V; Servicio de Genética Clínica, Sanatorio de Niños de Rosario, Argentina.
  • Damiani HJ; Servicio de Urología Pediátrica, Sanatorio de Niños de Rosario, Argentina.
  • Contardi JC; Servicio de Urología Pediátrica, Sanatorio de Niños de Rosario, Argentina.
Rev Chil Pediatr ; 91(1): 111-115, 2020 Feb.
Article em En, Es | MEDLINE | ID: mdl-32730421
INTRODUCTION: Among the disorders of sexual development, Klinefelter syndrome and its variants are classified as an alteration in the number of sex chromosomes. These patients show signs of hypergonadotropic hypogonadism at puberty, however cases of severe variants also present neurocognitive and language problems from an early age. OBJECTIVE: To describe two patients with genital malformation with genetic diagnosis of severe variants of Klinefelter syndrome, and to review clinical and therapeutic aspects. CLINICAL CASES: Case 1: Diagnosis of atypical genitalia at birth: Small and curved phallus with the urethral meatus at scrotal level, and bifid scrotum. No other somatic abnormality was observed, except for subtle clinodactyly of the fifth finger. Karyotype: 49, XXXXY. At one year of life, genitalia were reconstructed. The patient presented a global developmental delay, mainly in language, which was managed with early stimulation and speech and language therapy since he was two months old. Finally, he was able to attend kindergarten. Case 2: At one month of life, a small and severe curved phallus (more than 70°) was observed, and testicles were in the scrotum. Karyotype: 48, XXYY. At one year of life, the penile malformation was corrected. The patient presented global developmental delay, mainly in expressive language which was managed with early stimulation since the age of four months, achieving kindergarten attendance. CONCLUSION: Genital malformations led to the diagno sis of severe variants of Klinefelter syndrome, and were corrected around the year of life. The early identification of these variants allowed the intervention of the neurostimulation team, favoring the neurocognitive development and social integration of these children.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genitália / Síndrome de Klinefelter Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male / Newborn Idioma: En / Es Revista: Rev Chil Pediatr Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Argentina País de publicação: Chile

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genitália / Síndrome de Klinefelter Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male / Newborn Idioma: En / Es Revista: Rev Chil Pediatr Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Argentina País de publicação: Chile