ESPE Abstracts

Introduction: Cantu Syndrome is a very rare disease characterised by hypertrichosis, macrocephaly, wide nasal bridge, long philtrum, rough face, widening of the costae, flattening of the vertebrae, widening of the metaphysis, cardiomegaly, pericardial effusion, ventricular hypertrophy, hypotonia, delayed speech and mental retardation as a result of autosomal dominant mutation in ABCC9 gene. There is very limited data on endocrine findings of Cantu Syndrome in literature; panhypopituitarism has been reported in 1 case, diabetes insipidus has been reported in 1 case and hypothyroidism has been reported in 1 case. Although the mechanism of hypertrichosis is not known exactly in Cantu Syndrome, it is thought to occur as a result of the activation of K_ATP channel by SUR2 protein encoded by ABCC9 gene.

Case: Physical examination of the patient who presented at the age of 1 month with a complaint of hair growth all over the body since birth showed intense hypertrichosis on the extensor faces of the upper and lower extremities, forehead and the back, upward inclined palpebral intervals, umbilical hernia and Tanner stage 2 breast development. Investigations were normal except DHEAS:992 µg/dL which was significantly elevated. Echocardiography was normal. Genetic analysis revealed NM_005691.3 c.3605C>T (p. Thr1202Met) heterozygous mutation in ABCC9 gene. In the patient’s follow-up, telarch was found to regress, hypertrichosis decreased significantly, DHEAS levels decreased gradually and returned to normal at 15 months of age. In the last follow-up visit, height SDS of the patient's height was SDS:-0.19 at the age of 3 years and 6 months, bone age was evaluated as 3 years, and there was no other change on wrist radiography.

Conclusion: There is no information in the literature about androgen levels including DHEAS in Cantu Syndrome, which is rare. Since DHEAS elevation in our patient became normal in 15 months, it was thought that a transient DHEAS elevation can occur in Cantu Syndrome. It was thought that this may be overlooked in cases with Cantu Syndrome whose DHEAS levels are not tested in early period and therefore there is no data on this in literature. In our patient, hypertrichosis was more severe in the period of high DHEAS levels and hypertrichosis decreased with decreasing DHEAS levels, suggesting that high DHEAS levels contributed to hypertrichosis. In conclusion, our case has provided the literature with the information that transiently elevated DHEAS may be present in Cantu Syndrome and this may contribute to hypertrichosis.