IDSD2026 Poster Abstracts Poster Abstracts (93 abstracts)
From X to Y and everything in between: navigating care for patients with 45,X/46,XY mosaicism
Jodie Johnson 1 , Samantha Roberge 2,3 , Bridget Hagood 3,4 , Andrew Strine 3,5 , Iris Gutmark-Little 2,3 , Christine Pennesi 3,6 , Robert Hopkin 1,3 , Lesley Breech 3,6 , Tara Schafer-Kalkhoff 2 , Armand Antommaria, 3,7 & Meilan Rutter 2,3
1Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, USA; 2Division of Diabetes and Endocrinology, Cincinnati Children’s Hospital Medical Center, Cincinnati, USA; 3University of Cincinnati, Cincinnati, USA; 4Division of Behavior Medicine and Clinical Psychology, Cincinnati Children’s Hospital Medical Center, Cincinnati, USA; 5Division of Urology, Cincinnati Children’s Hospital Medical Center, Cincinnati, USA; 6Division of Pediatric and Adolescent Gynecology, Cincinnati Children’s Hospital Medical Center, Cincinnati, USA; 7Division of Hospital Medicine, Cincinnati Children’s Hospital Medical Center, Cincinnati, USA. Correspondence to: [email protected]
Background/Aims: Individuals with 45,X/46,XY mosaicism vary widely in phenotype, gender identity, and clinical needs, often resulting in disparities in care across different clinic settings. This can lead to variable counseling around gonad management, malignancy risk, fertility, hormone replacement therapy (HRT), gender assessment, and neuropsychological needs. Recent guidelines for individuals with Turner syndrome (TS) do not provide clear direction for this patient population. We aimed to define clinical care practices for patients with 45,X/46,XY mosaicism at our institution, with the goal to inform optimal care.
Methods: We identified patients with 45,X/46,XY mosaicism seen by Endocrinology/TS and/or the Differences of Sex Development (DSD) clinics at Cincinnati Children’s from 2019–2025, using diagnostic billing codes. Chart review included clinical services, genital phenotype, gonadectomy status, gonad pathology, HRT, gender counseling, and neuropsychological referrals.
Results: Of 46 patients with 45,X/46,XY mosaicism, clinical services were provided by TS (n = 22), DSD (n = 13), both DSD and TS (n = 7), and Endocrinology (n = 4) clinics. Sex assignment and genital phenotype were strong determinants: most with female sex and phenotype were seen in TS clinic, while most with a genital difference were seen in DSD clinic. Gonadectomy was undertaken in 32, at ages ranging from 6 months to 18 years; 10 had surgery after age 10, due to late diagnosis. Three had premalignant/malignant pathology (ages 5, 11, and 12). Half of individuals who underwent gonadectomy were not counseled preoperatively by the DSD team or a team member. Gender counseling was documented for 16 of 46 patients, nearly all within the DSD clinic. Of 23 patients on HRT, 16 received treatment in TS clinic without documentation of gender focused counseling. Neuropsychological evaluation was inconsistent, with only 3 of 21 referrals from the DSD clinic.
Conclusions: Individuals with 45,X/46,XY mosaicism experience a range of clinical care practices straddling services provided by TS/Endocrinology and/or DSD clinics, resulting in variable counseling around gonad management, gender identity, and neuropsychological needs. Standardized triage pathways and integrated care between TS and DSD clinics may improve consistency. Future study of care models across centers is needed to inform updated guidance for optimizing clinical care.
Volume 118
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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