Differences of Sex Development: A Study of 420 Patients from a Single Tertiary Pediatric Endocrinology Center
<i>Background</i>: 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. <i>Objective</i>: To describe the clini...
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MDPI AG
2025-07-01
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| author | Silvia Ventresca Laura Chioma Rosario Ruta Mafalda Mucciolo Pasquale Parisi Agnese Suppiej Sandro Loche Marco Cappa Carla Bizzarri |
| author_facet | Silvia Ventresca Laura Chioma Rosario Ruta Mafalda Mucciolo Pasquale Parisi Agnese Suppiej Sandro Loche Marco Cappa Carla Bizzarri |
| author_sort | Silvia Ventresca |
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| description | <i>Background</i>: 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. <i>Objective</i>: To describe the clinical profile, diagnosis, and management of patients with DSD, with particular attention to genetic diagnosis. <i>Study design</i>: Retrospective study from a tertiary care pediatric hospital in Italy. <i>Methods</i>: 420 patients with DSD referred to the Endocrine Unit of Bambino Gesù Children’s Hospital in Rome, Italy, between 2016 and 2023 were included. <i>Results</i>: 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 <i>AR</i> gene, one in the <i>NR5A1</i> gene, and one in the <i>SRY</i> gene. The use of NGS significantly improved the diagnostic yield, and a definitive diagnosis was reached in 84.76% of the entire cohort. <i>Conclusions:</i> 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. |
| format | Article |
| id | doaj-art-b0a7d855ca894e92b31e26553300a395 |
| institution | Kabale University |
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| language | English |
| publishDate | 2025-07-01 |
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| record_format | Article |
| series | Children |
| spelling | doaj-art-b0a7d855ca894e92b31e26553300a3952025-08-20T03:35:27ZengMDPI AGChildren2227-90672025-07-0112795410.3390/children12070954Differences of Sex Development: A Study of 420 Patients from a Single Tertiary Pediatric Endocrinology CenterSilvia Ventresca0Laura Chioma1Rosario Ruta2Mafalda Mucciolo3Pasquale Parisi4Agnese Suppiej5Sandro Loche6Marco Cappa7Carla Bizzarri8Department of Pediatrics, University Hospital Arcispedale Sant’Anna, University of Ferrara, 44124 Ferrara, ItalyUnit of Pediatric Endocrinology, Bambino Gesù Children’s Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, ItalyTranslational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyTranslational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyPediatrics Unit, Department of Neuroscience, Mental Health and Sense Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Pediatrics, University Hospital Arcispedale Sant’Anna, University of Ferrara, 44124 Ferrara, ItalyResearch Unit for Innovative Therapies in Endocrinopathies, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyResearch Unit for Innovative Therapies in Endocrinopathies, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyUnit of Pediatric Endocrinology, Bambino Gesù Children’s Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy<i>Background</i>: 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. <i>Objective</i>: To describe the clinical profile, diagnosis, and management of patients with DSD, with particular attention to genetic diagnosis. <i>Study design</i>: Retrospective study from a tertiary care pediatric hospital in Italy. <i>Methods</i>: 420 patients with DSD referred to the Endocrine Unit of Bambino Gesù Children’s Hospital in Rome, Italy, between 2016 and 2023 were included. <i>Results</i>: 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 <i>AR</i> gene, one in the <i>NR5A1</i> gene, and one in the <i>SRY</i> gene. The use of NGS significantly improved the diagnostic yield, and a definitive diagnosis was reached in 84.76% of the entire cohort. <i>Conclusions:</i> 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.https://www.mdpi.com/2227-9067/12/7/954differences of sex developmentgonadal dysgenesisgenetic diagnosisnext-generation sequencing |
| spellingShingle | Silvia Ventresca Laura Chioma Rosario Ruta Mafalda Mucciolo Pasquale Parisi Agnese Suppiej Sandro Loche Marco Cappa Carla Bizzarri Differences of Sex Development: A Study of 420 Patients from a Single Tertiary Pediatric Endocrinology Center Children differences of sex development gonadal dysgenesis genetic diagnosis next-generation sequencing |
| title | Differences of Sex Development: A Study of 420 Patients from a Single Tertiary Pediatric Endocrinology Center |
| title_full | Differences of Sex Development: A Study of 420 Patients from a Single Tertiary Pediatric Endocrinology Center |
| title_fullStr | Differences of Sex Development: A Study of 420 Patients from a Single Tertiary Pediatric Endocrinology Center |
| title_full_unstemmed | Differences of Sex Development: A Study of 420 Patients from a Single Tertiary Pediatric Endocrinology Center |
| title_short | Differences of Sex Development: A Study of 420 Patients from a Single Tertiary Pediatric Endocrinology Center |
| title_sort | differences of sex development a study of 420 patients from a single tertiary pediatric endocrinology center |
| topic | differences of sex development gonadal dysgenesis genetic diagnosis next-generation sequencing |
| url | https://www.mdpi.com/2227-9067/12/7/954 |
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