Etiological Classification and Clinical Assessment of Children and Adolescents with Disorders of Sex Development - Original Article

Abstract

Objective: In 2006, the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE) published a consensus statement on management of intersex disorders. The aim of our study was to determine the etiological distribution of disorders of sex development (DSD) according to the new DSD classification system and to evaluate the clinical features of DSDs in our patient cohort. Methods: We retrospectively reviewed the records of patients followed up during the past three years. The subjects were divided into three etiologic groups according to their karyotypes. The definite diagnosesin each subgroup were established by clinical and laboratory investigations including abdominopelvic imaging as well as basal and stimulated hormone measurements. Molecular genetic testing, except for CYP21A2 gene, could not be performed. Results: Out of a total of 95 patients, 26 had sex chromosome DSD, 45 had 46,XY DSD and 24 had 46,XX DSD. The most common causes of DSDs were Turner’s syndrome (TS), congenital adrenal hyperplasia (CAH) and androgen insensitivity syndrome (AIS). There was a wide variation in age of presentation ranging from 1 day to 17.5 years with a mean of 6.5±6.5 years. The most frequent complaints at presentation were ambiguous genitalia, isolated perineal hypospadias and short stature. Conclusion: The results of our study demonstrate that the new DSD classification system leads to a major change in the distribution of etiological diagnoses of DSDs, which is exemplified by the significant frequencies of TS and vanishing testes syndrome. This alteration expands the clinical spectrum and increases the mean age at diagnosis. However, the most common causes of ambiguous genitalia, such as CAH and AIS, remain unchanged. Further studies using molecular genetic analyses are needed to give a more precise distribution of etiologies of DSDs, especially in 46,XY patients.Conflict of interest:None declared.

Disorders of sex development in a developing country: perspectives and outcome of surgical management of 39 cases

“…Currently the disorders are broadly classified as 46, XX DSD, 46, XY DSD, and sex chromosome DSD (formerly female pseudohermaphroditism, male pseudohermaphroditism, and true hermaphroditism respectively) [1,2]. DSD commonly manifest as ambiguity of the genitalia and has been shown to vary in frequency depending on their aetiology [1][2][3]. However, congenital adrenal hyperplasia (CAH) remains the commonest overall cause of DSD [1][2][3][4].…”

“…DSD commonly manifest as ambiguity of the genitalia and has been shown to vary in frequency depending on their aetiology [1][2][3]. However, congenital adrenal hyperplasia (CAH) remains the commonest overall cause of DSD [1][2][3][4]. The cornerstone of management of DSD is thorough investigations to adequately elucidate the nature of the genetic sex, the gonad and the phenotype, and based on this, proper gender is assigned and appropriate genital reconstruction undertaken [1,5].…”

Disorders of sexual development: Small patients, big decisions

“…Bu yapısal, hormonal, genetik ve psikososyal sorunların tanımlanması için, hermafroditizm, (gerçek/yalancı hermafroditizm), kuşkulu genital yapı, interseks, cinsel gelişim kusuru/bozukluğu/sorunu/farklılığı terimleri kullanılmıştır. Cinsel gelişim sorunlarının sınıflanması hâlen tartışılmakta olup, en son kabul edilen sınıflama Tablo 1'de gösterilmiştir (5)(6)(7) . Tanım ve sınıflamada tartışılan en önemli konu, "kusur, bozukluk" (disorder) ve "interseks" (intersex) sözcük-lerinin kullanılmaması, genetik yapı özelliklerinin ön plana çıkartılmasıdır.…”

¿Falo o Fallopio? Consentimiento informado, anatomías equívocas y Divergencias del Desarrollo Sexual: aspectos médicos, legales y bioéticos

“…El Consenso de Expertos de la Academia Americana de Pediatría 13 que en 2006 definió las recomendaciones para el tratamiento de los estados intersexuales, sugirió una nueva nomenclatura para clasificar estas condiciones, con la intención de superar los términos que históricamente se han utilizado en el lenguaje médico como "hermafrodita" 14 , "pseudohermafroditismo", y que conllevan una fuerte connotación cultural, la cual se traduce en representaciones, discursos, dispositivos de estigma y exclusión social 15 , al emplear un repertorio que define al individuo según la apariencia de los genitales externos 16 . 14 Según Ovidio, en el libro IV de Metamorfosis, Hermafrodito era un hermoso varón, hijo de los dioses Hermes y Afrodita ("la encarnación del ideal de virilidad y femineidad", como afirma Alice Dreger), cuyo cuerpo fue unido con el cuerpo de Sálmacis, la ninfa de Frigia, tras la ardorosa solicitud a los dioses de la náyade, enferma de pasión por el joven dios: "Así, dioses, lo ordenéis, y a él ningún día de mí, ni a mí separe de él."…”

“…Alicante: Biblioteca Virtual Miguel de Cervantes, 2002. 15 El feminismo extiende una crítica al "sexismo de la lengua castellana", al exponer cómo las diferencias de sexo experimentan un proceso de estructuración semiótica a través del lenguaje, que perpetúa y reitera los mecanismos de antagonismos hegemónicos que diluyen la posibilidad de construir subjetividades diversas, y sitúa a todos y cada una en las antípodas del otro. VIOLÍ, P. El infinito singular.…”