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[Management guidelines for disorders / different sex development (DSD)].

Julio Guerrero-Fernández1, Cristina Azcona San Julián2, Jesús Barreiro Conde3

  • 1Grupo de Trabajo sobre ADS/DSD de la Sociedad Española de Endocrinología Pediátrica (SEEP); Servicio de Endocrinología Pediátrica, Hospital Infantil La Paz, Madrid, España.

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Summary

Disorders of Sex Development (DSD) are prenatal conditions affecting sexual differentiation. Diagnosis and treatment require a multidisciplinary approach, including genetic, hormonal, and imaging evaluations, alongside crucial psychosocial support.

Keywords:
Desarrollo sexual diferente (DSD)DiagnosisDiagnósticoDisorders of sex development (DSD)GuidelinesGuíaTherapyTransición a adultosTransition to adult careTratamiento

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Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Disorders of Sex Development (DSD) encompass diverse anomalies in chromosomal, gonadal, and phenotypic characteristics crucial for sexual differentiation.
  • These conditions originate prenatally and are classified based on karyotype, with numerous genetic causes, sometimes influenced by maternal factors or endocrine-disrupting chemicals (EDCs).

Purpose of the Study:

  • To provide a comprehensive overview of the current understanding and management of Disorders of Sex Development (DSD).
  • To emphasize the necessity of a multidisciplinary approach in diagnosing and treating DSD patients.

Main Methods:

  • Diagnostic procedures involve a combination of clinical assessment, biochemical (hormonal) analysis, genetic testing, imaging, and sometimes surgical examinations.
  • Treatment strategies address sex assignment, hormone replacement therapy, potential surgical interventions on genital structures or gonads, and psychosocial support.

Main Results:

  • An etiological diagnosis requires integrated efforts from various medical specialties.
  • Management focuses on individualized care, including pubertal hormone support and gonad monitoring for malignancy risk.

Conclusions:

  • Multidisciplinary medical and psychosocial care is essential for DSD patients.
  • Patient support groups, registries, and professional collaboration are vital for advancing diagnostic and therapeutic tools in DSD care.