RESUMEN
BACKGROUND: The incidence of infantile Blount disease is rising in parallel to the increasing obesity in children. MATERIAL AND METHODS: Seven children (3 female) between the ages of 17 and 30 months (21.8 ± 4.3 months) were included in the study. RESULTS: All patients had complaints of inward bowing of the legs and excess weight gain. The biochemical and hormonal assessments of all patients yielded normal results. Patients were diagnosed with infantile Blount disease based on clinical, laboratory, and radiological findings. CONCLUSION: This disease should be differentiated from physiological genu varum, and the potential psychosocial and physical complications are prevented with early diagnosis and treatment.
Asunto(s)
Enfermedades del Desarrollo Óseo/epidemiología , Obesidad/epidemiología , Osteocondrosis/congénito , Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Preescolar , Comorbilidad , Femenino , Humanos , Lactante , Masculino , Osteocondrosis/diagnóstico por imagen , Osteocondrosis/epidemiología , Radiografía , Aumento de PesoRESUMEN
Complete androgen insensitivity syndrome (CAIS) associated with Müllerian remnant is rare during childhood. The Müllerian system usually regresses because of the presence of the anti-Müllerian hormone (AMH) originating from the Sertoli cells of the gonads. Rarely, residual Müllerian structures may exist. We present two cases from the same family, raised as females. They were 12 and 18 years old, respectively, and they had Tanner V breast development but Tanner I-II pubic hair. The older patient had primary amenorrhea. Both have a 46,XY genotype. Pelvic ultrasonography revealed no uterus and ovaries. The patients underwent bilateral laporoscopic gonadectomy. Both had residual Müllerian structures. Mutation analyses were performed, and both patients were found to be carrying a point mutation in exon 4 of the AR gene consisting of a G nucleotide deletion at position c.1890delG, followed by a frame-shift mutation and a stop codon. This mutation has not been described yet in the literature. Although the association with CAIS and Müllerian remnant is rare, no genetic defect specific to androgen insensitivity with Müllerian remnants has been identified so far.