Endocrine Abstracts

Introduction: Down Syndrome is the commonest genetic disorder with a frequency of 1 in 700 births. Amongst many features associated with this condition, autoimmune and non-autoimmune endocrine disorders are some of the commonest manifestations. We present the case of a child with Down Syndrome with multiple autoimmune endocrine disorders and discuss the challenges she will face in her management as well as upon transition to adult services.

Case Report: A 15 year 11 month old girl was admitted due to a 2 month history of vague right flank pain, intermittent vomiting, fatigue and reduced appetite and new periocular hyperpigmentation. A significant background of autoimmune hypothyroidism and T1DM since the age of 5 and 10 years old respectively, as well as secondary amenorrhoea since menarche at age 14 and elevated gonadotrophins were noted. During admission she was hypotensive and she required IV fluids due to extremely poor oral intake. Whereas she previously had good blood glucose control she was now experiencing frequent hypoglycaemic episodes. Laboratory workup revealed borderline hyponatraemia with normal serum potassium levels. Early morning cortisol was low and Short Synachten Test failed to demonstrate a serum cortisol rise in response to synthetic ACTH. Serum renin was raised, aldosterone was low, 17 – OHP levels were normal. Anti-adrenal gland antibodies were detected. Our patient was diagnosed with autoimmune primary adrenal insufficiency. She commenced hydrocortisone and fludrocortisone replacement with doses uptitrated as per clinical and biochemical response. Her hypoglycaemic plan was updated to include IM Hydrocortisone administration prior to IM Glucagon in case of severe hypoglycaemia. Pelvic ultrasound demonstrates a small uterus and difficulty visualising the ovaries. Anti – ovarian antibodies are present thus indicating autoimmune ovarian insufficiency.

Conclusion: Our case demonstrates the complexity of autoimmune endocrine disease in the context of Down Syndrome. Careful consideration to management of hydrocortisone replacement, diabetic control and thyroid function surveillance will be needed on an ongoing basis. Unfortunately, literature shows that transition to adult services for children with Down Syndrome is not as successful as other children with chronic medical conditions therefore highlighting a required area of improvement going forward.