EYES2024 ESE Young Endocrinologists and Scientists (EYES) 2024 Interdisciplinary Endocrinology (6 abstracts)
Putting two and two together: a rare case of mccune-albright syndrome
Celina Luca 1 , Diana-Ioana Popescu 1 , Nicoleta Chelaru 1 , Viviana-Elena Adam 1 , Ionut-Daniel Iancu 3 , Ioana Vasiliu 2,3 , Cristina Preda 1,2 & Cristina Cristea 1
1Department of Endocrinology, “Sf. Spiridon” County Clinical Emergency Hospital Iasi, Romania; 2University of Medicine and Pharmacy "Gr. T. Popa" Iasi, Romania; 3"Sf. Maria" Clinical Emergency Children’s Hospital Iasi, Romania
Introduction: McCune-Albright syndrome (MAS) is a rare genetic disorder caused by somatic gain-of-function mutations in the GNAS gene, leading to persistent activation of the stimulatory alpha subunit of the G protein cellular signaling complex and dysregulated cyclic AMP production in the target tissues. The phenotype, although highly variable, is classically defined as the triad of fibrous dysplasia of the bone, cafe-au-lait skin macules and hyperfunctioning endocrinopathies.
Case presentation: We report the case of a 26-month-old female patient who initially presented with vaginal bleeding and sinus tachycardia, further investigations revealing gonadotropin-independent precocious puberty in association with non-autoimmune hyperthyroidism and prompting the initiation of thiamazole treatment. These findings were followed by a wrist X-ray, which showed an advanced bone age, a pelvic ultrasound and a pelvic MRI, where multiple ovarian cysts were identified. The patient was referred to the department of Paediatric Surgery for intermittent ovarian torsion, where laparoscopic enucleation of the cysts was performed with temporary clinical and biological resolution of the precocious puberty. However, due to the recurrent character of the estrogen-secreting ovarian cysts, treatment with aromatase inhibitor was later initiated. Given the clinical presentation and the hormonal profile together with a personal history of three bone fractures and three cafe-au-lait skin macules, McCune-Albright syndrome was suspected and genetic testing is underway.
Conclusion: Although rare, McCune-Albright syndrome should be considered in case of precocious puberty in association with other hyperfunctioning endocrinopathies. A comprehensive examination along with regular follow-up to assess for clinical improvement and detect the appearance of other manifestations are needed in order to manage this challenging disorder.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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