We report the case of a seven-year-old boy, unicogenised child, born at 33w, PN 1,540 Kg, (APGAR 8-10), hospitalized in neonatology unit for 30 days, invasive respiratory assistance was not necessary. At birth evidence of hypospadias with penile incurvation, oval fossa pervia, corpus callosum agenesis. Normal male karyotype. For positivity to screening for IC (in-situ normal thyroid), started L-Thyroxine therapy. When he was six the phenotype showed broad forehead, down-slant eyelid, bulbous nose tip with long filter, malarial hypoplasia, large auricles, no supplants, adrenarche, normal testicular volume, acceleration of growth rate, normal IQ. We started diagnostic procedure with confirmation of adrenogenital syndrome (double heterozygous V281L - R26W). At seven-year CMA test was performed with detection of microduplication region 3p25.3 about 546 Kb which partially involves the OMIM Diseasde gene causing ATP2B2 and a paternal segregation microduplication of the chromosome long arm 4, of the 4p23 region, extended about 181 Kb not involving OMIM Desease Causing genes. Both mutations to date are not associated with syndromic frameworks or clinics highlighted in the patient, however it is not possible to predict the phenotype of the child and a monitoring follow-up over time is required.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology