The International Journal of Romanian Society of Endocrinology / Registered in 1938

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January - March 2015, Volume 11, Issue 1
Case Report

Belei O, Brad GF, Marginean O

An Adolescent Suspected by IPEX Syndrome: Immune Dysregulation, Polyendocrinopathy, Enteropathy X-Linked

Acta Endo (Buc) 2015, 11 (1): 103-108
doi: 10.4183/aeb.2015.103

Introduction. Immune Dysregulation, Polyendocrinopathy, Enteropathy X-Linked (IPEX) Syndrome represents a rare X linked disorder, characterised by development of systemic autoimmunity from the first year of life. IPEX is due to mutations in the FOXP3 gene located on the X-chromosome. There are no specific laboratory tests to confirm the diagnosis. Molecular analysis of the FOXP3 gene(Xp11.2-q13.3) is required for the diagnosis. Chronic immunosuppression and hematopoietic stem cell transplantation represent the two main therapeutic interventions for this immune dysfunction, the last one being the only curative treatment. Case presentation. The authors present the case of a male patient aged 14 years old, who was admitted for ketoacidotic diabetes onset. He was diagnosed with polyendocrine autoimmune association (diabetes mellitus type 1, autoimmune thyroiditis and hypo-gonadotrophic hypogonadism). This patient associated celiac disease, sustained on clinical, immunological and histological changes:recurrent diarrhea, positive IgA anti-tissue transglutaminase antibodies and total villous atrophy on intestinal biopsy sample. He also presented recurrent eczematous dermatitis associated to elevated serum concentration of immunoglobulin E. The authors sustained the diagnosis of IPEX syndrome in this case based on family history of unexplained early deaths of the patient´s uncles from the motherside, along with clinical and laboratory aspects. Drug treatment included nutritional support, immunosuppressant therapy and hormone replacement. Conclusions. The most important aspect in this case was considering IPEX syndrome after integration of all clinical and paraclinical data but without molecular analysis of the FOX P3 gene. The presumption of IPEX syndrome reconsidered in this case the treatment and the prognosis. Life expectancy is reduced in this condition that usually occurs in the first months of life. The particularity of this case was the late onset of IPEX syndrome, presenting a severe phenotype with aggressive autoimmune associations that led finally to the patient’s death.

Keywords: IPEX syndrome, diabetes mellitus type 1, autoimmune thyroiditis, celiac disease.

Correspondence: Oana Belei MD, “Victor Babes” University of Medicine and Pharmacy, First Pediatric Clinic, No 2, Iosif Nemoianu street Timisoara, 300011, Romania, E-mail: