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Bone and Mineral Metabolism

MON-740 - X-Linked Hypophosphatemic Rickets: A Retrospective Cohort Study at A Tertiary Referral Center in Mexico City.

Monday, June 15, 2026
9:00 AM - 2:00 PM CT
Location: ENDOExpo; Poster Floor
Disclosure(s):
Amilcar Rivero Rejón: No financial relationships to disclose


Background: X-linked hypophosphatemia (XLH) is a rare inherited disorder of phosphate homeostasis that results in rickets during childhood and osteomalacia in adulthood. While pediatric manifestations are well described, the long-term multisystem burden of XLH in adults remains poorly characterized, leading to delayed recognition and suboptimal management of disease-related complications.

Methods: We performed a comprehensive, multidisciplinary characterization of adults with molecularly confirmed XLH. Patients underwent systematic evaluation, including clinical, biochemical, genetic, radiological, dental, audiological, and psychiatric assessments conducted. Disease-related complications, functional impairment, pain burden, and comorbidities were analyzed to define the adult phenotype of XLH.

Results: Persistent skeletal abnormalities originating in childhood were observed in all patients and were associated with significant functional limitation and reduced quality of life. Chronic musculoskeletal pain was nearly universal, predominantly involving the lower extremities, and was associated with early-onset osteoarthritis, enthesopathies, and radiographically confirmed pseudofractures, representing a major yet underrecognized contributor to morbidity. Dental abnormalities were highly prevalent and included mandibular condyle flattening, enlarged pulp chambers, and tooth retention. Audiological involvement, rarely reported in adult XLH, was identified, including unilateral sensorineural hearing loss and abnormal stapedial reflexes, likely related to abnormal ossification of the temporal bone and middle ear structures. Notably, psychiatric comorbidities such as depression, anxiety, and substance use disorders were frequently identified, underscoring the substantial psychosocial burden of the disease.

Conclusions: This study constitutes one of the most detailed molecularly confirmed adult XLH cohorts reported in Mexico and provides novel insight into the multisystemic and psychosocial burden of XLH in adulthood. Our findings emphasize that XLH is not solely a pediatric bone disorder but a lifelong, multisystem disease requiring early recognition and sustained multidisciplinary management. Incorporating comprehensive pain and mental health assessment into routine care may significantly improve long-term outcomes and quality of life, supporting the need for adult-focused clinical pathways in XLH.

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