Endocrine Abstracts

Introduction: H syndrome is a non-Langerhansian histiocytosis secondary to a mutation in the SLC29A3 gene encoding the nucleotide transport protein hENT3, It is a rare disease with a prevalence of 1 case 1,000,000 mainly characterized by hyperpigmentation, hypertrichosis and hepatosplenomegaly with endocrine manifestations including hypogonadism, short stature and insulin dependent diabetes mellitus. We report the case of a 20-year-old male who was admitted to our endocrinology department for chronic glycemic imbalance. Clinical case: This is a 20 year old patient, with a history of Mutism with deafness diagnosed at the age of 2 years, known type 1 diabetic since the age of 10 years put on insulin therapy basal bolus scheme. In addition, the patient presents a picture of exocrine pancreatic insufficiency under creon since 5 years. We had evoked a wolfram diabetes, in front of the presence of the deafness and the diabetes type 1. During the clinical examination we noticed hyperpigmented patches on the thighs and legs, as well as hypertrichosis. This led to the consideration of syndrome H as a possible diagnosis. A skin biopsy was performed on the hyperpigmented patch, which came back positive for markers: PS100 and CD68, confirming the diagnosis. The genetic study could not be done.

Conclusion: Although considered a very rare disease, this syndrome is probably not diagnosed and therefore not reported. The characteristic skin manifestation as well as genetic testing are essential for diagnosis. The hearing loss also varies in severity and may go unrecognized.