hrp0098p3-7 | Adrenals and HPA Axis | ESPE2024
Seyma Oguzalp Sevim
, Neslihan Bildik Hacer
, Eldem Veli
, Cetinkaya Semra
, Muratoglu Sahin Nursel
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 ...