2024
DOI: 10.1159/000542307
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Clinical and Genetic Mechanisms in Patients with MC2R Deficiency Presenting with Early Puberty

Esin Karakilic Ozturan,
Zehra Yavas Abali,
Volkan Karaman
et al.

Abstract: Introduction: Melanocortin receptor 2 (MC2R) in the adrenal cortex controls the hypothalamic-pituitary-adrenal axis. The melanocortin system, influenced by leptin, regulates GnRH neurons, crucial for puberty onset and fertility. This study evaluates early puberty in primary adrenal insufficiency (PAI) patients due to MC2R gene alterations. Methods: Seven patients with PAI (P1-P7) from five unrelated families, all presenting with early or precocious puberty, were included. MC2R deficiency diagnosis ranged from … Show more

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