ESPE Abstracts

Background: ACTH-independent adrenal Cushing’s syndrome accounts for less than 15% of endogenous Cushing’s syndrome in children. We present a rare case of ACTH-independent adrenal Cushing’s syndrome, which was associated with myoclonic dystonia.Case presentation: A 12-year old girl was referred on account of rapid weight gain, fatigue, growth deceleration and facial hypertrichosis. She had a history of gait instability and ataxia till the ...

Background: A high frequency of extrathyroidal congenital anomalies has been reported in infants with congenital hypothyroidism (CH) detected by neonatal screening. Current ESPE guidelines suggest that congenital malformations, underlying dysmorphic syndromes and psychomotor and language development should be sought for and monitored in CH patients. The identification of co-existing nosologies and malformations is helpful not only for clinical purposes but also for uncovering ...