ECEESPE2025 ePoster Presentations Reproductive and Developmental Endocrinology (128 abstracts)
Morbid obesity in a patient with a Y chromosome microdeletion
Yesmine Elloumi 1 , Wissal Abbes 1 , Dhoha Ben Salah 1 , Kouloud Boujelben 1 , Hadjkacem Faten 1 , Nadia Charfi 1 , Mouna Mnif 1 , Mohamed Abid 1 , Mouna Elleuch 1 & Nabila Rekik Majdoub 1
1Hedi Chaker University Hospital, Endocrinology Department, Sfax, Tunisia.
JOINT837
Background: Y chromosome microdeletions, specifically those occurring on the long arm (Yq) and within the AZF region, are a rare genetic cause of male infertility. These deletions typically result in the loss of one or more genes crucial for sperm production. While infertility is the primary consequence, an intriguing association with obesity has been observed in some cases.
Case report: A 29-year-old male with a family history of obesity was admitted to the Endocrinology department for morbid obesity. Physical examination revealed a blood pressure of 10/5 cmHg, faciotruncal obesity with a BMI of 61 kg/m2, capillary fragility, and striae. Notably, the patient had an absent beard but preserved morning erections and libido. Genital examination showed testes measuring 3.2 and 3.4 cm in length with micropenis. No dysmorphic features were present. Laboratory results showed low testosterone levels at 0.51 ng/ml, LH and FSH levels at 4.8 mIU/ml and 12.3 mIU/ml respectively, and a normal prolactin level. Karyotyping revealed a deletion of the long arm of the Y chromosome.
Conclusion: Partial microdeletions of Yq may have side effects such as hypogonadism and obesity. These findings highlight the phenotypic variability associated with Yq microdeletions and emphasize the importance of comprehensive clinical evaluation in affected individuals.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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