Introduction: Ulnar mammary syndrome (UMS) is caused by a mutation of T-box transcription factor 3 (TBX3). It is a rare condition with only a few cases being reported in the literature. We report a child with ulnar mammary syndrome .
Case Report: The patient presented to us at 14 years 6 months of age with concerns of failure to gain height which was noted from the age of 11years. His investigations were suggestive of growth hormone deficiency, hyogonadotropic hypogonadism. Genetic testing revealed heterogenous 5'splice site variation in intron 2 of the TBX3 gene that affects the invariant GT donor splice site of exon 2 . The observed variation has previously been reported in a patient affected with ulnar mammary syndrome.
Discussion: Ulnar-mammary syndrome (UMS) was first described in 1975 by McKusick . UMS presents with high variability and typically with asymmetric presentation. It is a rare genetic disorder and the exact prevalence currently is unknown with less than 150 cases being reported in the medical literature . It is caused by a mutation in the T-box genes, specifically T-box transcription factor 3 (TBX3) on chromosome 12q23-24 which are involved in body patterning during embryogenesis and maps the extremities. A high index of suspicion is required to diagnosed this condition . Genetic test can be asked for when the clinical picture is not classical of the condition to confirm the diagnosis. Early diagnosis is important to treat the multiple co existing endocrine abnormalities and improve the quality of life in children with this condition.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology