ESPE Abstracts

Background: Hypothyroidism is an endocrine condition that occurs when the thyroid gland doesn’t make enough thyroid hormone. This condition affects approximately 5% of the general population with an additional estimated 5% being undiagnosed. Clinical presentation may be atypical with subsequent misdiagnosis in the absence of relevant specialists. Pediatric endocrinologists are just five in the Kenyan county hospitals, two of whom were funded by the Kenya Pediatric Fellowship Program.

Case report: Herein, we describe a case of a 12-year-old girl with longstanding hypothyroidism who presented to a nephrologist with proteinuria having been misdiagnosed severally in different hospitals. Upon referral to a pediatric endocrinologist, further history unearthed recurrent vomiting, poor appetite, inactivity, memory impairment, intellectual and speech development challenges since the age of 2 years. Physical examination revealed short stature, ptosis, hair loss in the outer eye brows; myxedematous facies, extremely dry skin and hypertrophied calf muscles, otherwise known as Kocher Debre Semelaigne Syndrome. Thyroid function tests showed severe primary hypothyroidism. The thyroid ultrasound scan showed an atrophic thyroid gland with normal neck vasculature. Challenges in full laboratory work up ensued leading to fundraising for sample referrals. Thyroid peroxidase and thyroglobulin levels were elevated while thyroglobulin level was severely diminished. Thyroid receptor antibodies and acetylcholine receptor antibodies were negative. There was dyslipidemia and moderate proteinuria. Initiation of levothyroxine led to a gradual resolution of proteinuria, dyslipidemia, ptosis and vomiting with improvement in height velocity and appetite. The hypertrophied calf muscles reduced gradually. However, growth velocity has been sub-optimal owing to non-compliance occasioned by financial constraints to regular healthcare access.

Conclusion: This case highlights the challenges and opportunities in the resource limited centers. Investment in healthcare including specialist training and diagnostics may enhance timely diagnosis and management. More public private partnership is encouraged to sustain optimal care.