REVIEW  UPDATE IN PEDIATRIC DIABETES AND ENDOCRINOLOGY: PROCEEDING OF THE 7TH WINTER AND SUMMER ISPED SCHOOL FOR PHYSICIANS 

Minerva Pediatrics 2021 December;73(6):606-20

DOI: 10.23736/S2724-5276.21.06512-5

Copyright © 2021 EDIZIONI MINERVA MEDICA

lingua: Inglese

Differences of sex development in the newborn: from clinical scenario to molecular diagnosis

Anastasia IBBA ¹, Marta DEL PISTOIA ², Antonio BALSAMO ³, Federico BARONIO ³, Donatella CAPALBO ⁴, Gianni RUSSO ⁵, Luisa DE SANCTIS ⁶, Carla BIZZARRI ⁷ ✉

¹ Pediatric Endocrine Unit and Neonatal Screening Center, A. Cao Microcythemic Pediatric Hospital, ARNAS Brotzu, Cagliari, Italy; ² Division of Neonatology and NICU, Department of Clinical and Experimental Medicine, Santa Chiara University Hospital, Pisa, Italy; ³ Unit of Pediatrics, Department of Medical and Surgical Sciences, S. Orsola-Malpighi University Hospital, Bologna, Italy; ⁴ Unit of Pediatric Endocrinology, Department of Mother and Child, University of Naples Federico II, Naples, Italy; ⁵ Endocrine Unit, Department of Pediatrics, San Raffaele Scientific Institute, Milan, Italy; ⁶ Unit of Pediatric Endocrinology, Department of Public Health and Pediatric Sciences, University of Turin, Turin, Italy; ⁷ Unit of Endocrinology, Bambino Gesù Children’s Hospital, Rome, Italy

Differences/disorders of sex development (DSD) are defined as a group of congenital conditions in which the development of chromosomal, gonadal or anatomical sex is atypical. The incidence of DSD is 1:4500 births. The current classification divides DSDs into 3 categories according to chromosomal sex: 46,XX DSD, 46,XY DSD and sex chromosome DSD. DSD phenotypes can be concordant with the genotype (apparently normal external genitalia associated with gonadal dysgenesis), or can range from simply hypospadias to completely masculinised or feminised genitalia with a discordant karyotype. Numerous genes implicated in genital development have been reported. The search of genetic variants represents a central element of the extended investigation, as an improved knowledge of the genetic aetiology helps the immediate and long-term management of children with DSDs, in term of sex of rearing, hormone therapy, surgery, fertility and cancer risk. This review aims to assess the current role of molecular diagnosis in DSD management.

KEY WORDS: Disorders of sex development; Infant, newborn; Diagnosis.Diagnosis