Fertility preservation in differences of sex development: early institutional experience

Zofia Kolesińska; Patrycja Marciniak-Ste¸pak; Patrycja Sosnowska-Sienkiewicz; Aleksandra Chodecka; Przemysław Mańkowski; Katarzyna Derwich; Wiesława Grajkowska; Marek Niedziela; Jacek Kamoda; Karina Kapczuk

doi:10.1530/endoabs.118.PO58

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Endocrine Abstracts (2026) 118 PO58 | DOI: 10.1530/endoabs.118.PO58

IDSD2026 Poster Abstracts Poster Abstracts (93 abstracts)

Fertility preservation in differences of sex development: early institutional experience

Zofia Kolesińska ¹ , Patrycja Marciniak-Ste¸pak ^2,3 , Patrycja Sosnowska-Sienkiewicz ⁴ , Aleksandra Chodecka ^5,6,7 , Przemysław Mańkowski ⁴ , Katarzyna Derwich ² , Wiesława Grajkowska ⁸ , Marek Niedziela ¹ , Jacek Kamoda ⁹ & Karina Kapczuk ^5,10

Author affiliations

¹Department of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznan University of Medical Sciences, Poznan, Poland; ²Department of Pediatric Oncology, Hematology and Transplantology, Institute of Pediatrics, Poznan University of Medical Sciences, Poznan, Poland; ³Department of Medical Simulation, Poznan University of Medical Sciences, Poznan, Poland; ⁴Department of Pediatric Surgery, Traumatology and Urology, Institute of Pediatrics, Poznan University of Medical Sciences, Poznan, Poland; ⁵Karol Jonscher’s Clinical Hospital, Poznan, Poland; ⁶Faculty of Psychology and Cognitive Sciences, Postgraduate Studies in Clinical Sexology, Adam Mickiewicz University, Poznan, Poland; ⁷Psychological and Sexological Center for Development and Therapy, Poznan, Poland; ⁸Department of Pathology, The Children’s Memorial Health Institute, Warsaw, Poland; ⁹Invimed Warsaw Mokotow, Warsaw, Poland; ¹⁰Division of Gynecology, Poznan University of Medical Sciences, Poznan, Poland. Correspondence to: [email protected]

Background: Ovarian tissue cryopreservation (OTC) is an established fertility-preservation method in paediatric oncology but is rarely reported in children with differences of sex development (DSD). Patients with DSD, especially those with gonadal dysgenesis, require careful tumour surveillance due to an increased risk of germ cell malignancy, particularly with Y-chromosome material, intra-abdominal gonads, or atypical genitalia. When gonadectomy is recommended, OTC may provide an opportunity for fertility preservation.

Materials and Methods: In 2021, a multidisciplinary OTC protocol for children at risk of ovarian function loss was established at our institution. The pathway includes endocrine and radiological evaluation, surgical consultation, psychological counselling, ethical review, standardized ovarian tissue processing, and cryobiology logistics.

Results: OTC was performed in four patients: three with Turner syndrome (TS) and one with mixed gonadal dysgenesis (MGD), at a mean age of 6.9 years (range 4.7–12.4 years). In two TS patients and in the patient with MGD, gonadectomy was indicated due to an increased risk of germ cell malignancy. Both TS patients had Y-chromosome material in their karyotype and biochemical and radiological evidence of gonadal insufficiency (AMH 0,01 ng/mL, FSH >10 IU/L, no follicles on ultrasound). Despite the low likelihood of viable follicles, parents opted for cryopreservation at the time of bilateral gonadectomy. In the patient with MGD, the intra-abdominal dysgenetic gonad was removed because of its high oncologic risk, while the contralateral gonad with testicular characteristics was preserved, acknowledging that gender identity development may evolve over time. Although antral follicles had been visualized during minipuberty, histopathology at age 5 revealed fibrotic ovarian stroma without follicles or neoplasia. Similar findings were observed in the two TS patients. The third TS patient underwent OTC after spontaneous menarche with diminished ovarian reserve (AMH 0,55 ng/mL, FSH 10 IU/L, antral follicles detectable on ultrasound). Histopathology confirmed the presence of follicles (20/mm²).

Conclusions: OTC in patients with DSD is feasible but challenging. In TS with Y-chromosome material and ovarian insufficiency, cryopreservation may provide reassurance to families that all possible steps toward fertility preservation had been explored. Early consideration of fertility preservation and transparent counselling regarding realistic outcomes are essential.