A case of complete deletion of 18p associated with no previous reported thyroid hemiagenesis, and immunoglobulin G (IgG) deficiency.

A. TANGARI, C. MAGADÁN, G. MENA, J.A. GARRIDO, R. DE BELLIS, A. LAUDICINA, G. DEL REY

Cartagena de Indias

Congreso; XXII Reunión Anual de la Sociedad Latinoamericana de Endocrinología Pediátrica. Cartagena, Colombia. Setiembre 7-10 de 2011; 2011

Sociedad Latinoamericana de Endocrinología Pediátrica

Introduction: Deletion 18p is one of the most frequent autosomalmonosomies. Clinical features are short stature, holoprosencephalyspectrum, and mental retardation. Hypopituitarism,autoimmune disease and IgA deficiency can be present. We report apatient with 18p- with thyroid hemiagenesis and immunodeficiency.Methods: A 4 year old boy born from healthy unrelated parents whowas referred for short stature. Dysmorphic features, tetralogy of Fallot,length 85cm (-4DSD) and developmental delay were found. Historyof recurrent suppurative otitis, respiratory, urine and skin infections.Delay of 30 months on BA. Results: Laboratory:TSH:12.83mUI/ml (0.7?6.4); free T4:1.06ng/dl (0.72?1.72); T4:6.87ug/dl (5?12.5);T3:191ng/dl (80?260); basal GH:2.98ng/ml (< 5); IGF1:115ng/ml(49?283); IGFBP3:3.3ug/dl (1.1?5.6), normal cortisol and prolactinlevels. IgG: 371mg/dl (701?1157). Thyroid ultrasound showed a rightlobe of 1.15cc and absence of the left lobule confirmed by 99mTcscan. Brain MRI showed ventricular dilatation. Cytogenetic andFISH analysis were performed using centromeric (18p11.2) and Conclusions: The finding of thyroid hemiagenesis and IgG deficiencypreviously not reported in a patient with complete deletion 18pis a contribution to the genotype/phenotype characterization of thissyndrome, and to the study of thyroid dysgenesis subtelomeric(18p11.32) Live probes. Karyotype: 46,XY,del(18)(p11.1