Triple P’s & Dwarfism

A 12-year-old female presented to the endocrinology clinic with a one-month history of polyuria, polyphagia, and polydipsia. A routine laboratory study at the long-term care home where she lived revealed a serum non-fasting glucose of 270 mg/dl while several urinalyses showed no glycosuria or ketonuria.

Physical examination revealed markedly dysmorphic child, with additional finding of several secondary teeth, Tanner stage I, a III / VI holosystolic murmur, a colostomy, no acanthosis nigrans with weight 14.9kg and height 106 cm. She had typical features like microcephaly, deafness, hypoplastic alae nasi, dwarfism, imperforate anus, and congenital hypertrophic cardiomyopathy.

Laboratory investigations revealed haemoglobin A1c of 12.1%, serum glucose of 593 mg/dl, and bicarbonate of 25 mEq/1. Urinalysis showed no glycosuria or ketonuria. Due to the concern of the unknown effect of insulin in a patient with JBS, she was given only one unit of regular insulin as a test dose. After admission, her serum glucose values increased to over 800 mg/dl, and she was glycosuric but never ketonuric. Additional investigations are depicted in the images.