Libro blanco de las ACES Pediátricas 2024

Endocrinología Pediátrica. Anexos ❚ 179 43 L. SEX DEVELOPMENT AND GENDER 1 Chromosomal, gonadal and phenotypic sex Psychosexual development: gender identity, gender role, and sexual orientation C 2 Embryology, molecular genetic basis and role of hormones for determination, differentiation and development of gonads, internal structures and external genitalia C 3 Difference in sex differentiation/ development (DSD) 39 • Different terms • Definition and differentiation from Gender dysphoria • Molecular and biochemical basis C 4 DSD Clinical manifestations and multidisciplinary approach (local, regional and international) to the evaluation, sex assignment, diagnosis and management (medical, psychological and surgical) • By age at presentation: newborn, childhood, adolescence 40 • Pathophysiological classification: o XX DSD, Ovotesticular DSD o XY DSD, XY gonadal dysgenesis; LH/HCG receptor defects; defects in testosterone biosynthesis or action o Chromosomal DSD, mixed gonadal dysgenesis; XO/XY, XX/XY and other sex chromosome variations C, D 5 Priorities in evaluation of newborn with atypical genitalia • Differentiating from normal variations • Use of external genital score • Monitoring for salt wasting CAH C 6 Evaluating outcome of DSD • germ cell tumours • hormone function and need for sex hormone replacement • psychosexual function and activity • prospects of fertility • psych-social-cultural health C 7 Long term course of DSD, counselling patient and family, ethical issues, socio-cultural and religious issues, considerations for sex assignment/reassignment, timing of surgery, advocacy groups opinion 41 C 8 Gender non-conformity / gender dysphoria / gender variance: definition, principles of care, national legislation D

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