Introduction: DAX1 (NROB1) mutation, that is among the causes of primary adrenal insufficiency; is revealed with X-linked congenital adrenal hypoplasia and hypogonodotropic hypogonadism. Growth hormone (GH) deficiency is not common in affected individuals. In the literature, there are few cases of GH treatment . growth hormone therapy in two cases with DAX1 gene mutation were evaluated in clinical features and treatment responses.
Case 1: A 4-year-11 months old boy, was born at 3700 g at 38th gestational week.. He was vomiting and weight loss for the first time at age of 1 month. His hormonal evaluation, ACTH (adrenocorticotropic hormone) was very high, that was compatible with adrenal hypoplasia. In further analysis DAX-1 mutation was revealed. In spite of appropriate medical treatment, the annual elongation was 3 cm. In the examination performed at 3 years and 7 months old weight was 10.3 kg (-3.9 SD) ; height was 79 cm (-5.5 SD) ; IGF-1 was 66.2. Bone age was 1 year - 1 year and 3 months. Neurosecretory dysfunction was revealed in case that growth hormone deficiency was investigated. Height growth of case in growth hormone therapy has 7 cm per year .
Case 2: A 17-year-old male patient referred to our clinic at the age of 8 years and 7 months. He was born at 39 th gestational week at 4500 g. At the age of 2 years, he presented with vomiting and convulsion. He was diagnosed with familial glucocorticoid deficiency in other center. In the advanced examination, DAX-1 mutation was revealed. At the time of initial admission to our clinic, the patient's weight was 36.5 kg (97p>, 1.75 SD), and the height was 118 cm (3-10 p, -2.15 SD) and he was prepubertal. His height growth for the last 1 year was insufficient 3.6 cm / year despite the appropriate treatment for primary disease. Growth hormone stimulation tests were result with BH deficiency. At 10 year 10 months old he was started on GH threapy and had an average annual growth rate of 5 cm. .
Conclusion: In the DAX1 mutation, that is the most common cause of congenital adrenal hypoplasia, GH deficency is not an expected finding and is rarely reported.We shared our experience with growth hormone treatment in two cases with DAX1 mutation. Dispite a relatively good growth rate was observed in the first case, the rate of elongation in both cases was lower than expected.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology