ECEESPE2025 Poster Presentations Reproductive and Developmental Endocrinology (93 abstracts)
A case of 46, XY complete gonadal dysgenesis presenting with precocious peripheral puberty
Gökçe Velioğlu Haşlak 1 , Elvan Bayramoglu 1 , Funda Feryal Tas 2 , Asli Bestas 2 , Mert Ucar 1 , Ilayda Altun 1 , Hasan Karakas 1 , Abdurrahman Guney 1 , Zeyneb Demirkol 1 , Ismet Mehmet Etyemez 1 , Ayse Kalyoncu Ucar 3 , Hande Turan 1 & Olcay Evliyaoglu 1
1Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Pediatric Endocrinology, Istanbul, Türkiye; 2Gazi Yasargil Education and Research Hospital, Pediatric Endocrinology, Diyarbakir, Türkiye; 3Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Pediatric Radiology, Istanbul, Türkiye
JOINT3454
Introduction: 46, XY complete gonadal dysgenesis, also known as Swyer syndrome, is a rare disorder of sex development characterized by a normal female phenotype at birth. Patients usually present in adolescence with complaints of menstrual failure or lack of breast development. This case presents a rare clinical presentation. Case: A six-year and two-month-old female presented with breast enlargement observed three months prior. Her older sister had been examined for primary amenorrhea at 17 years, karyotyped as 46 XY, and underwent gonadectomy. The patient’s height was 116.7 cm (-0.1 SDS) and weight 19.2 kg (-0.72 SDS). External examination showed no axillary hair, pubarche at stage 1, and thelarche at stage 3. Laboratory tests yielded: LH: 0.1 mIU/ml, FSH: <0.3 mIU/ml, estradiol: 13 pg/ml, total testosterone: 16 ng/dl, AFP: <0.9 IU/ml, and β-HCG: 88.8 mIU/ml. Gonadotropins were suppressed in GnRH stimulation test. Bone age was consistent with 6 years and 10 months. Ultrasonography revealed a uterus measuring 45x25x10 mm, with thin endometrium, and both gonads approximately 0.4 ml in volume. The patient was diagnosed with precocious peripheral puberty (PPP). Screening tests were performed considering elevated β-HCG as a cause. Cranial and sella MRI examinations were normal. PET-CT demonstrated calcific foci without fluorodeoxyglucose uptake in both adnexal areas. Contrast-enhanced pelvic MRI exhibited hypointense areas in both gonads, suggestive of dysgerminoma on the background of gonadoblastoma. The patient’s karyotype was 46 XY. Bilateral gonadectomy was performed, with histopathological examination pending. Postoperative monitoring indicated regression of β-HCG and estradiol levels.
Conclusion: This case report presents a rare clinical finding in a patient with 46 XY complete gonadal dysgenesis. Patients typically show absence of pubertal signs in adolescence due to dysfunctional gonads. However, rare cases presenting with PPP have been documented, as observed in our patient. This presentation is thought to be due to high aromatase activity and tumoral hormone production in dysgenetic gonads. Since dysgenetic gonads can undergo neoplastic changes, they should be removed upon diagnosis regardless of patient age. This case report highlights atypical findings that may complicate diagnosis and delay urgent gonadectomy.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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