ESPE2016 Poster Presentations Perinatal Endocrinology P2 (23 abstracts)
A Unique IL2RA Mutation Presenting as Neonatal Diabetes, Congenital Hypothyroidism and Sepsis
V. Sri Nagesh a , Andrew Hattersley b , Sian Ellard b , Elisa De Franco b , Sarah Flanagan b , Altaf Naseem c , A. Ahmed c , Tanveer Ahmed c & K. Venkateswarlu a
aCare Hospital, Hyderabad, Telangana, India; bUniversity Of Exeter Medical School, Exeter, Devon, UK; cCandy Children’s Hospital, Hyderabad, Telangana, India
Background: 16 year old female neonate presented with neonatal diabetes, congenital hypothyroidism and sepsis.
Objective and hypotheses: To evaluate the neonate for a common cause of neonatal diabetes, congenital hypothyroidism and sepsis and to explore for the best modality of management, including a possible role for sulphonylureas.
Method: The neonate born of 3rd degree consanguinity was admitted and started on insulin infusion and thyroxine supplementation of 25 μg. After stabilisation, she was switched to subcutaneous insulin, but the dose requirements were so low that she needed only 0.3 units of glargine in two divided doses daily for a weight of 5 kg. Thyroxine dose also needed to be enhanced to 50 μg. Ultrasound neck showed normal thyroid morphology. Genetic analysis was sought.
Results: On Day 52 of life, child developed severe sepsis and expired within 4 days. Targeted next-gen sequencing revealed a homozygous Interleukin2 Receptor Agonist partial deletion c.65-?_819+?del, associated with lymphoproliferation and autoimmunity. Her parents were heterozygous for same mutation and unaffected. She is only the second child to present with IL2RA mutation and diabetes and the first with this unique mutation.
Conclusion: The IL2RA mutation caused a constellation of features including sepsis, neonatal diabetes and hypothyroidism (? Possibly autoimmune in origin) which culminated in the death of the neonate due to severe sepsis. Since the parents are consanguineous, they have been offered antenatal genetic testing in future pregnancies.
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