Background: CHARGE is an autosomal-dominant syndrome which includes a variable combination of coloboma of the eye, heart malformations, atresia of the choanae, retardation of growth and development, and genital and ear abnormalities CHARGE syndrome has rarely been associated with anterior pituitary dysfunction and with structural abnormalities of the pituitary gland only twice. We report the case of a child with CHARGE association and congenital hypopituitarism due to structural abnormalities of the pituitary gland
Case presentation: The patient was a boy born with IUGR (birth weight 2020gr, 37weeks' gestation) Clinical features included retinal coloboma and microphthalmia, choanal atresia, dysplastic auricles with small accessory auricle, multicystic dysplastic kidney and hypospadias with cryptorchidism. Endocrine testing revealed central hypothyroidism and secondary hypoadrenalism. There was an inadequate response to low-dose intravenous Synacthen stimulation, with serum cortisol peaking at 10.3µg/dl at 1 hour. He was started on thyroxine and hydrocortisone replacement.
Because of severe growth impairment by the age of 3.4years (HSDS:-4.71, HVSDS: -3.62), growth hormone secretion was evaluated. A severe GHD was detected (peak GH 1.56ng/ml in both tests) and rhGH therapy was initiated. MRI revealed ectopic posterior pituitary
Conclusion: We describe the case of a boy fulfilling criteria of CHARGE association (Blakes 1998, Verloes 2005) presenting with multiple anterior pituitary hormone deficiencies and structural pituitary abnormality. To our knowledge, this is the 3rd case in the literature where congenital hypopituitarism in CHARGE syndrome is associated with pituitary structural abnormalities and especially ectopic posterior pituitary
19 - 21 Sep 2019
European Society for Paediatric Endocrinology