Differences of Sex Development
A Study of 420 Patients from a Single Tertiary Pediatric Endocrinology Center
Bibliographic Data
| ID | 15720141 |
|---|---|
| Authors | Silvia Ventresca (0000-0002-9967-1810, Sapienza University of Rome), Laura Chioma (0000-0002-0388-4337, Bambino Gesù Children's Hospital), Rosario Ruta (0000-0002-0582-2017, Bambino Gesù Children's Hospital), Mafalda Mucciolo (0000-0003-2228-8271, Bambino Gesù Children's Hospital), Pasquale Parisi (0000-0001-9042-8120, Sapienza University of Rome), Agnese Suppiej (0000-0001-5130-1450, Arcispedale Sant'Anna), Sandro Loche (0000-0003-4558-8533, Bambino Gesù Children's Hospital), Marco Cappa (0000-0001-5647-7519, Bambino Gesù Children's Hospital), Carla Bizzarri (0000-0002-5616-9185, Bambino Gesù Children's Hospital, corresponding author) |
| Year | 2025 |
| Volume | 12 |
| Issue | 7 |
| Pages | 954-954 |
| Publication date | 2025-07-19 |
| Peer Reviewed | Yes |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Children (JOURNAL) |
| Journal identifiers | ISSN: 2227-9067 • E-ISSN: 2227-9067 |
| Publisher | Multidisciplinary Digital Publishing Institute (PUBLISHER • CH) |
| DOI | 10.3390/children12070954 |
| PMID | 40723147 |
| OpenAlex | W4412519921 |
| Language | EN |
| References cited | 42 |
Background : Differences of sex development (DSD) are a group of congenital conditions characterized by atypical development of genital structures. The diagnosis is complex and involves clinical, hormonal, and genetic evaluations. Objective : To describe the clinical profile, diagnosis, and management of patients with DSD, with particular attention to genetic diagnosis. Study design : Retrospective study from a tertiary care pediatric hospital in Italy. Methods : 420 patients with DSD referred to the Endocrine Unit of Bambino Gesù Children's Hospital in Rome, Italy, between 2016 and 2023 were included. Results : 75 patients had a 46,XY karyotype, 135 had a 46,XX karyotype, and 210 had chromosomal mosaicism. In our group of pediatric DSD patients, 21/420 patients were born from pregnancies induced with assisted reproduction techniques (ICSI/FIVET). Of these 21 patients, 5 had sex chromosome mosaicism. Using next-generation sequencing (NGS), we identified three new genetic variants: one in the AR gene, one in the NR5A1 gene, and one in the SRY gene. The use of NGS significantly improved the diagnostic yield, and a definitive diagnosis was reached in 84.76% of the entire cohort. Conclusions: This study highlights the challenges in the management of patients with DSD from early recognition to treatment and follow-up. A multidisciplinary approach is essential for a comprehensive evaluation of these conditions and to understand the role and clinical significance of the genetic variants
Center (category theory · Mathematics education · Pediatric endocrinology · Tertiary care · Tertiary level · Chemistry · Hormonal and reproductive studies · Medicine · Psychology · Sexual Differentiation and Disorders · Urological Disorders and Treatments · Endocrinology · Internal Medicine
| Citation velocity | historical |
|---|---|
| Highly cited | No |