AUTHOR’S COPY | AUTORENEXEMPLAR
J Pediatr Endocr Met 2011;24(3-4):241–242 © 2011 by Walter de Gruyter • Berlin • New York. DOI 10.1515/JPEM.2011.121
Patient report: sacral agenesis with hypopituitarism
Abhay Gundgurthi, Manoj K. Dutta, Rajiv Pakhetra and Mahendra K. Garg* Department of Endocrinology, Army Hospital (Referral & Research, Delhi Cantt, India
Abstract We report an association of sacral agenesis and hypopituitarism in a child born of a diabetic mother. The child presented with short stature and evaluation revealed sacral agenesis, growth hormone deficiency (GHD) and adrenal insufficiency. This association might be important as short stature in children with sacral agenesis is usually attributed to mechanical factors. Early detection of GHD and treatment might help the child in gaining height. Keywords: gestational diabetes mellitus; growth hormone deficiency; hypopituitarism; sacral agenesis.
Introduction Diabetes mellitus during pregnancy has many deleterious metabolic effects and causes congenital anomalies in the fetus. Among these, sacral agenesis of varying degrees is a well known complication. It is 252 times more common in infants of diabetic mothers (1). Here we report a child of a diabetic mother who presented with sacral agenesis and hypopituitarism.
Patient report A 6-year-old boy was referred to the endocrine department due to poor height gain. The parents had noticed that since the age of 2 years the child was not gaining adequate height when compared to his peers. The mother of the child was diagnosed with gestational diabetes mellitus at 12 weeks of gestation and euglycemia was achieved with insulin therapy. The child was the product of a non-consanguineous marriage and delivered by cesarean section at 8 months of gestational age, the indication being intrauterine growth retardation (IUGR). His birth weight was 1.0 kg and he was nursed in the neonatal intensive care unit for about 2 weeks for neonatal asphyxia. In utero, mother had noticed there was decrease in
*Corresponding author: M.K. Garg, Department of Endocrinology, Army Hospital (Referral & Research, Delhi Cantt 110010, India Phone: +91-9650565894, E-mail:
[email protected]
the fetal movements. Serial prenatal ultrasonographic studies had shown IUGR, no evidence of polyhydromnios or any congenital malformations. He had delayed motor and social development and dentition. The parents noticed a dimple in the low back, there was no discontinuity in the skin over the dimple. At the age of 2 years when the child started to walk with support, he had a broad-based gait and used to fall intermittently. At the age of 4 years the child was able to walk unsupported and now he can run for about 50 m. Bladder and bowel control were not achieved till the age of 5 years. Growth velocity in the preceding 14 months was 4 cm. The child had no history of chronic systemic illness. On examination his height was 89 cm, an upper to lower segment ratio of 0.98, arm span of 87 cm, weight of 11 kg, body surface area of 0.52 m2 and head circumference of 50 cm. His height was
