Neuroendocrine Axis Investigation in Patients with Arhinia, Hemiarhinia and Associated Malformations

AimTo investigate the neuroendocrine axis in patients with arhinia, hemiarhinia, and their associated malformations.MethodsData were manually extracted from medical records at Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo (HRAC-USP) using a newly developed protocol. They were explored through a descriptive and qualitative manner. This study was approved by the HRAC-USP Ethics Committee and is part of a large research project on this topic.ResultsNine patients were included in the final sample, of which three had isolated hemiarhinia, three had hemiarhinia with additional malformations, and three were diagnosed with Bosma arhinia-microphthalmia (BAM) syndrome. Among those with isolated hemiarhinia, two presented neuroendocrine alterations (primary hypothyroidism, micropenis with bilateral cryptorchidism, and weight and height deficits). Patients with hemiarhinia and associated malformations demonstrated no clinical or laboratory evidence of neuroendocrine dysfunction. In the BAM syndrome group, two patients exhibited central hypogonadotropic dysfunction, with undetectable luteinizing hormone and follicle-stimulating hormone levels. The third patient showed no abnormalities.ConclusionsArhinia, hemiarhinia, and their associated malformations encompass a broad spectrum of manifestations that can affect multiple organs and systems, particularly the neuroendocrine system. Despite their potential impact, screening for these conditions remains poorly conducted, which may lead to underdiagnosis or delayed recognition of associated complications. Consequently, a comprehensive evaluation is essential to ensure appropriate monitoring and management of affected patients.