The Turkish Journal of Pediatrics
2010 , Vol 52 , Num 3
Growth Hormone Deficiency Due to Traumatic Brain Injury in a Patient with X-linked Congenital Adrenal Hypoplasia
1Division of Pediatric Endocrinology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara,
Turkey, and 2Christian Albrechts University, Kiel, Germany
X-linked adrenal hypoplasia congenita (AHC) is characterized by primary adrenal
insufficiency and is frequently associated with hypogonadotropic hypogonadism
(HH). The production of other pituitary hormones (adrenocorticotropic
hormone [ACTH], growth hormone [GH], thyroid-stimulating hormone [TSH],
and prolactin [PRL]) is usually normal. Mutations of the DAX-1 gene have
been reported in patients with AHC and HH. We present a 13-year-old male
patient with AHC caused by a nonsense mutation in the DAX-1 gene who
developed GH deficiency following head trauma. He showed signs of adrenal
insufficiency at the age of 23 months, and glucocorticoid and mineralocorticoid
treatment was started. His parents reported head trauma due to a traffic
accident at the age of 21 months. Adrenal computed tomography revealed
hypoplasia of the left and agenesis of the right adrenal gland. Decreased
growth rate was noted at the age of 12.5 years while receiving hydrocortisone
15 mg/m2/day. His height was 139.9 cm (-1.46 SD), body weight was 54.9
kg, pubic hair was Tanner stage 1, and testis size was 3 ml. His bone age
was 7 years. His gonadotropin (follicle-stimulating hormone [FSH], luteinizing
hormone [LH]) and testosterone levels were prepubertal. The evaluation of
GH/insulin-like growth factor-1 (IGF-1) secretion at the age of 13 years
revealed GH deficiency. Pituitary magnetic resonance imaging demonstrated a
hypoplastic hypophysis (<2.5 mm) and a normal infundibulum. GH treatment
(0.73 IU/kg/week) was started. This paper reports a patient with genetically
confirmed AHC demonstrating GH deficiency possibly due to a previous head
trauma. Complete pituitary evaluation should be performed in any child who
has survived severe traumatic brain injury.
Keywords :
X-linked congenital adrenal hypoplasia, growth hormone deficiency, traumatic
brain injury.