ESPE Abstracts

Background: The Xp21 contiguous gen deletion syndrome is a rare disorder which is characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and Duchenne muscular dystrophy. It is caused by partial deletion of Xp 21. On Xp21 several genes are located contiguously, such as NR0B1/DAX1, dystrofin gen and gene for glycerol kinase, and the clinical features depend on the size of the deletion. The major clinical manifestations are: electrolyte imbalance and hyperpigmentation of skin, psychomotor retardation, lethargy, convulsions, muscle weakness and hypotonia. We present the case of 8-day old patient with this rare disease.

Case Report: A 8-day old male newborn was admitted to our clinic for vomiting, poor feeding, weight loss and scrotal hyperpigementation. He was born at 37 weeks of gestation from uncomplicated pregnancy by spontaneus vaginal delivery. Birth lenght was 47cm (3^rd percentile). Birth weight was 2610 g (10^th percentile). There was no family history of endocrine disorders or consanguinity. Essential finding at presentation showed dehydrated neonate with blood pressure 52/34 mmHg, bilateral cryptorchidism and scrotal hyperpigementation. Laboratory findings showed hypoglicaemia (1,4mmol/l), hyponatremia (122 mmol/l), hyperkalemia (6,1mmol/l), extremely elevated adenocorticotropic hormone (ACTH 6870 pg/ml), low cortisol (13 ng/ml), abnormaly low aldosteron (1,0 ng/ml), high plasma renin concentration (500 mIU/ml) and normal range of 17-hydroxyprogesteron. An ultrasound of adrenals was demonstrated small for age adrenal glands. Based on the biochemical features of hyponatremia, hyperkalemia, hypoglycemia, low cortisol, low aldosterone, high ACTH, he was diagnosed to have primary adrenal insufficiency. Hydrocortisone and fluorohydrocortisone treatments were started. He was well until six months. He regularly came for endocrinologist checks-ups and his supstituion was good. At the age of 6 months, he became hypotonic and he had hypertransaminasemia, high creatine phosphokinase (9516 U/l) and high triglyceride (7,1 mmol/l). Combining this evidence of adrenal hypofunction with highly elevated creatine phosphokinase levels and hypertriglyceridemia, the Xp21 contiguous gen deletion syndrome was suspected. Neonate underwent genetic investigations. Microarray analysis showed the Xp deletion (Xp 21.2-21.3), which include NR0B1, GK, and DMD genes.

Conclusions: The Xp21 contiguous gen deletion sydrome is a rare disorder in our population which requires multidisciplinary team approach. Pediatricans should consider Xp 21 syndrome in infants with congenital adrenal hypoplasia, hypotonia, increased levels of creatine phosphokinase, transaminases and triglycerides to be able to prevent and treat the possible complications.