title: [Peripheral precocious puberty: 46, XY complete gonadal dysgenesis].
abstract: Despite standard clinical definitions and availability of diagnostic tests for precocious puberty, an intensive and structured investigation is needed in order to diagnose the aetiology in particular cases. A 4-year-old, phenotypically female child was referred to paediatric endocrinology consultation for premature pubarche and thelarche. There was an acceleration of growth velocity with high levels of estradiol and testosterone, and prepubertal FSH and LH measurements. Investigation showed bilateral gonadoblastoma as the cause of the peripheral precocious puberty. Genetic studies revealed 46 XY karyotype with mutation c.89G> T (p.Arg30Ile) in exon 1 of the SRY gene, confirming the diagnosis of complete gonadal dysgenesis. Disorders of sexual differentiation must be considered in the approach and investigation of peripheral precocious puberty, especially in the presence of ovarian tumours, such as gonadoblastoma and dysgerminoma.
authors.affiliation: Departamento de Pediatría, Centro Hospitalar do Alto Ave, Guimarães, Portugal. Electronic address: msantalha@gmail.com.
authors.forename: M
authors.initials: M
authors.lastname: Santalha
authors.affiliation: Unidad de Endocrinología Pediátrica, Centro Hospitalar do Porto, Porto, Portugal.
authors.forename: B
authors.initials: B
authors.lastname: Amaral
authors.affiliation: Departamento de Cirugía Pediátrica, Centro Hospitalar do Porto, Porto, Portugal.
authors.forename: J
authors.initials: J
authors.lastname: Pereira
authors.affiliation: Unidad de Endocrinología Pediátrica, Centro Hospitalar do Porto, Porto, Portugal.
authors.forename: L
authors.initials: L
authors.lastname: Ribeiro
authors.affiliation: Unidad de Endocrinología Pediátrica, Centro Hospitalar do Porto, Porto, Portugal.
authors.forename: M
authors.initials: M
authors.lastname: João Oliveira
authors.affiliation: Unidad de Endocrinología Pediátrica, Centro Hospitalar do Porto, Porto, Portugal.
authors.forename: S
authors.initials: S
authors.lastname: Figueiredo
authors.affiliation: Unidad de Endocrinología Pediátrica, Centro Hospitalar do Porto, Porto, Portugal.
authors.forename: H
authors.initials: H
authors.lastname: Cardoso
authors.affiliation: Departamento de Patología, Centro Hospitalar do Porto, Porto, Portugal.
authors.forename: C
authors.initials: C
authors.lastname: Peixoto
authors.affiliation: Unidad de Endocrinología Pediátrica, Centro Hospitalar do Porto, Porto, Portugal.
authors.forename: T
authors.initials: T
authors.lastname: Borges
authors.affiliation: Departamento de Cirugía Pediátrica, Centro Hospitalar do Porto, Porto, Portugal.
authors.forename: J A
authors.initials: JA
authors.lastname: Cidade-Rodrigues
mesh_terms: D002675:Child, Preschool; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000209:etiology*; D018238:Gonadoblastoma / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D010051:Ovarian Neoplasms / Q000150:complications* / Q000175:diagnosis; D011629:Puberty, Precocious / Q000209:etiology*
keywords: Disgenesia gonadal; Gonadal dysgenesis; Gonadoblastoma; Precocious puberty; Pubertad precoz