ESPE2024 Poster Category 2 Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (24 abstracts)
Gonadal function and outcome in 46, XX testicular/ovotesticular DSD – first round collection data from the I-DSD Registry study.
Margherita Sepich 1 , Silvano Bertelloni 1 , Nina Tyutyusheva 1 , Angela Lucas-Herald 2 , Inas Mazen 3 , Martine Cools 4 , Şükran Poyrazoğlu 5 , Olaf Hiort 6 , Ulla Döhnert 6 , Uta Neumann 7 , Franziska Phan-Hug 8 , Navoda Atapattu 9 , Sumudu Nimali Seneviratne 10 , Renata Markosyan 11 , Sofía Suco 12 , Federico Baronio 13 , Corina Lichiardopol 14 , Gilvydas Verkauskas 15 , Marianna Rita Stancampiano 16 , Gianni Russo 16 , Daniel Konrad 17 , Nina Lenherr-Taube 17 , Sabine E Hannema 18 , Ajay Thankamony 19 , Gabriella Gazdagh 20 , Diego G Peroni 21 & S Faisal Ahmed 2
1Pediatrics Unit, Endocrinology Section, University of Pisa, Pisa University Hospital, Pisa, Italy. 2Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, United Kingdom. 3Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. 4Department of Paediatric Endocrinology, Ghent University Hospital, University of Ghent, Ghent, Belgium. 5İstanbul University, İstanbul Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Istanbul, Turkey. 6Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Lübeck, Lübeck, Germany. 7Centre for Chronic Sick Children, Department of Paediatric Endocrinology and Diabetology, Charité Universitätsmedizin Berlin, Berlin, Germany. 8Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne, Switzerland. 9Paediatric Endocrinology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka. 10Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. 11Yerevan State Medical University, Muratsan University Hospital, Clinic of Endocrinology, Yerevan, Armenia. 12Centro de Investigaciones Endocrinológicas 'Dr. César Bergadá' (CEDIE), CONICET - FEI - División de Endocrinología, Buenos Aires, Argentina. 13Department of Pediatrics, University of Bologna Hospital of Bologna Sant Orsola-Malpighi, Bologna, Italy. 14Endocrinology, University of Medicine and Pharmacy Craiova, Craiova, Romania. 15Children's Hospital, Vilnius University Hospital Santariskiu Klinikos, Vilnius, Lithuania. 16Department of Pediatrics, Endocrine Unit, Scientific Institute San Raffaele, Milan, Italy. 17Department of Pediatric Endocrinology and Diabetology and Children's Research Center, University Children's Hospital, University of Zurich, Zürich, Switzerland. 18Department of Pediatric Endocrinology, Amsterdam UMC location Vrije Universiteit, Emma Children's Hospital, Amsterdam, Netherlands. 19Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom. 20University Hospital Southampton, Southampton, United Kingdom. 21Department of Clinical and Experimental Medicine, Section of Pediatrics, University of Pisa, Pisa, Italy
Background: Testicular and ovo-testicular 46,XX-DSD are very rare conditions that have a variable presentation and often pose challenging questions regarding long-term outcome of gonadal function.
Methods: Eligible cases were identified in the I-DSD Registry and centres were asked to update the clinical dataset to their last available assessment. The cases were categorised by assigned sex and age categories. Elevated and depressed hormonal levels were defined as those above the 97.5th centile and below the 2.5th centile, respectively, for reference range.
Results: In total, 97 cases were identified from 21 centres. Of these, 19 centres with 57 cases (25 T-DSD, 32 OT-DSD) were willing to participate. The median (range) age at diagnosis (n,18) was 5 months (birth,35y). At birth, 38 cases were assigned males, 17 females and 2 were not assigned. In the first two years of life, 3 out of 7 male cases had an elevated FSH while in adolescence 2 out of 3 were elevated. For female cases, elevated FSH values were observed in the first two years of life in 2 out of 4 cases. In the first two years of life 3 out of 7 male cases had an elevated LH while in adolescence 2 out of 3 patients had elevated levels. AMH in all male cases up to 11 years (n,11) was below the 50th centile for males and in 7 (64%) of these was below the 2.5th centile. In 2 female cases (n,4), AMH was above the female reference range before 1 year of life. In those over 14 year-olds where information was available, spontaneous puberty was observed in 3 out of 10 male cases and in 1 out of 2 females. In male cases, the stretched penile length (SPL) was <2.5th centile in 8 out of 9 infants (88%) and in 6 out of 9 adolescents (67%), respectively. In the post-pubertal period, 6 out of 12 (50%) had a SPL <50th centile.
Conclusion: In 46,XX testicular and ovo-testicular DSD, biochemical and physical signs of gonadal insufficiency are frequently present in early infancy and late adolescence irrespective of assigned sex.
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