Background: Cantù syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Other findings described are vascular abnormalities, pulmonary hypertension, generalized edema, mild learning disability and behavioral problems. Cantù syndrome is related to an heterozygous pathogenic variant in ABCC9 or KCNJ8, which can be inherited in an autosominal dominant manner or due to a de novo pathogenic variant.
Objective and hypotheses: We report a particular case of a 15 years old girl, affected by Cantù syndrome clinically diagnosed (genetic tests are currently being conducted), with hypopituitarism.
Results: The propositus showed macrocephaly and typical coarse facial features with broad nasal bridge, anteverted nares, enlarged nasal filter, macroglossia and enlarged pinna. She also has widespread hypertrichosis, joint laxity, pectus carinatum and hoarsely voice. The patient also showed bone abnormalities typical of Cantù Syndrome and cardiac involvement represented by a dilated cardiomyopathy. Diagnosis of central congenital hypothyroidism was made at 1 month of life. During the follow-up, diagnosis of GH deficiency and hypogonadotropic hypogonadism was made. MRI showed a hypoplastic pituitary.
Conclusion: We described the first case of Cantù Syndrome with hypopituitarism, underlying the importance to assess endocrine status at diagnosis and during follow-up in these patients.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology