ECEESPE2025 ePoster Presentations Reproductive and Developmental Endocrinology (128 abstracts)
Primary amenorrhoea revealing prader-willi syndrome: a case report
Baltagi Myriam 1 , Meriem Adel 1 , Marwa Chiboub 1 , Mariam Mestiri 1 , Manel Jemel 1 , Mediha Trabelsi 2 & Ines Kammoun 1
1National Institute of Nutrition Tunisia, University of Tunis El Manar, Faculty of Medecine of Tunis, 1007, Tunisia., Endocrinology, Tunis, Tunisia; 2Charles Nicolle Hospital, Genetics, Tunis, Tunisia.
JOINT2515
Background: Prader-Willi syndrome (PWS) is a complex genetic disorder characterized by obesity, developmental delay, and hypogonadism. This case describes an adolescent with primary amenorrhea and a genetic profile compatible with PWS, but without SNRPN microdeletion.
Case Presentation: An 18-year, 9-month-old female was referred for primary amenorrhea. She had a history of morbid obesity since infancy, neonatal hypotonia, and delayed motor milestones (walking at 3 years). She was born at term with a birth weight of 3.25 kg, and obesity became evident at 1 year of age. Early hyperphagia and inappropriate feeding practices were noted. In the physical examination, the body mass index was 46 kg/m2and the pubertal development according to the Tanner stage was S4P4. Pelvic ultrasound showed normal internal genitalia. Hormonal investigations revealed normal gonadotropins (FSH 4.41 mIU/ml, LH 5 mIU/ml), normal testosterone (0.14 ng/ml), normal thyroid function (TSH 0.8 mIU/ml, free T4 15 pmol/L), and prolactin 17 ng/ml. A progestogen challenge test was negative. Genetic analysis revealed a profile consistent with PWS, although no microdeletion of the SNRPN locus was detected. She was started on estradiol and medroxyprogesterone to induce menstrual cycle and prevent complications such as osteoporosis. Follow-up is focused on optimizing endocrine and metabolic outcomes.
Conclusion: This case highlights the importance of considering PWS in patients with early-onset obesity, hypotonia, and endocrine abnormalities, even in the absence of classic genetic findings. Multidisciplinary care, including hormone replacement and nutritional management, is essential for managing the wide range of complications and improving long-term outcomes.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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