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Mosaicismo sexual / Sexual mosaicism
Espinosa Reyes, Tania M; Valdés Gómez, Wendy; Pérez López, Henry.
  • Espinosa Reyes, Tania M; Instituto Nacional de Endocrinología. La Habana. CU
  • Valdés Gómez, Wendy; Instituto Nacional de Endocrinología. La Habana. CU
  • Pérez López, Henry; Hospital Militar Central Dr. Carlos J. Finlay. La Habana. CU
Rev. cuba. endocrinol ; 30(3): e176, sept.-dic. 2019. graf
Article in Spanish | LILACS, CUMED | ID: biblio-1126444
Responsible library: CU1.1
RESUMEN
RESUMEN Los trastornos del desarrollo sexual son estados congénitos en los cuales el desarrollo del sexo cromosómico, gonadal o anatómico es atípico. Por tratarse de un caso sumamente raro consideramos de interés su presentación. Se presenta adolescente masculino de 15 años, con antecedentes de genitales atípicos al nacer, desarrollo de baja talla y estigmas turnerianos, pubertad espontánea y normal. Los estudios genéticos determinaron como sexo cromosómico un mosaico 45,X/46,XY/47XYY, y sexo molecular varón. Se inscribió socialmente como varón, se le realizó cirugía de reconstrucción genital y utilizó tratamiento con hormona de crecimiento biosintética que mantiene actualmente. La evolución clínica ha sido favorable con adecuada integración social. Ante la presencia de genitales atípicos al nacer se necesita de un manejo multidisciplinario. El diagnóstico etiológico de los trastornos de la diferenciación sexual requiere de una alta pericia médica. Un tratamiento integral en estos pacientes les garantiza una buena calidad de vida(AU)
ABSTRACT
ABSTRACT Sexual development´s disorders are congenital states in which the development of the chromosomal, anatomic or gonadal sex is atypical. Since this is a very rare case, we consider it as of interests for presentation. It is presented a teenager, 15-years-old male, with a history of atypical genitalia at birth, development of short height and Turner's stigmas, and spontaneous and normal puberty. The genetic studies identified as chromosomal sex a mosaic 45,X/46,XY/47XYY and male as molecular sex. He was socially registered as a male, he had a genital reconstruction surgery and he was under treatment with biosynthetic growth hormone that he currently maintains. The clinical evolution has been favourable with adequate social integration. In the presence of atypical genitalia at birth, it is needed a multidisciplinary management. The etiological diagnosis of disorders of sexual differentiation requires a high level of medical expertise. A comprehensive treatment in these patients guarantees them a good quality of life(AU)
Subject(s)

Full text: Available Index: LILACS (Americas) Main subject: Quality of Life / Disorders of Sex Development / Sex Reassignment Surgery / Mosaicism Type of study: Case report / Prognostic study Limits: Adolescent / Humans / Male Language: Spanish Journal: Rev. cuba. endocrinol Journal subject: Endocrinology Year: 2019 Type: Article Affiliation country: Cuba Institution/Affiliation country: Hospital Militar Central Dr. Carlos J. Finlay/CU / Instituto Nacional de Endocrinología/CU

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Full text: Available Index: LILACS (Americas) Main subject: Quality of Life / Disorders of Sex Development / Sex Reassignment Surgery / Mosaicism Type of study: Case report / Prognostic study Limits: Adolescent / Humans / Male Language: Spanish Journal: Rev. cuba. endocrinol Journal subject: Endocrinology Year: 2019 Type: Article Affiliation country: Cuba Institution/Affiliation country: Hospital Militar Central Dr. Carlos J. Finlay/CU / Instituto Nacional de Endocrinología/CU