Endocrine Abstracts

Kearns-Sayre syndrome (KSS) is a mitochondrial disorder characterized by progressive external ophthalmoplegia, pigmentary retinopathy, together with cardiac conduction defects, muscle abnormalities and endocrinopathies such as growth hormone deficiency (GHD), diabetes and hypoparathyroidism.

We present a 2 years 9 months-old boy with clinical and biochemical diagnosis of KSS and GHD. He was referred with failure-to-thrive. He was born at term from healthy 2 cousins, parents. Postnatal he was followed in intensive care and he had tracheotomy for 1.5 years. On admission, weight was 11.6 kg (3-10 p), height was 85 cm (<3 p), bilateral ptosis and scar on the tracheal notch. Biochemical analysis was normal except mild anemia. Hormonal investigations revealed central hypothyroidism (TSH: 1.72 mIu/ml, sT4:0.66 ng/dl (0.67-1.2). L-thyroxin treatment was started. Thyroid USG showed hypoplastic gland (1.23 ml).

GHD was determined (stimulated GH:1.81 ng/ml). IGF1 was 17.87 ng/ml (24-152), IGFBP-3 was 633 ng/ml (232-6595). Small sella, thin infundibulum and agenesis of adenohypophysis were shown in MRI. GH was started.

Cardiac examination was normal. Retinal examination revealed venous dilatation and an increase in vascular tortuosity. Lipid deposition was found in muscle biopsy.

Homozygous missense mutations were found in Mt-DNA rRNA RNR1 (1438 A>G) and RNR2 (1766 T>G and 3010 G>A). Additionally homozygous missense mutation was determined in Mt-DNA 8860 A>G.

KSS was confirmed and Coenzyme Q and riboflavin was started.

At the last visit he was 5 years 9 months old, height was 121.5 cm (90 p) and weight was 23 kg (90 p). Excellent result has been achieved with GH therapy in our patient.

Conclusion: GHD caused by adenohypophysis agenesis in the present case and this association has never being reported up to now.