Related Experiment Videos
Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies
D Marsden1, W L Nyhan, N O Sakati
1Department of Pediatrics, University of California, San Diego, La Jolla 92093-0609A.
Insights
This study details a Saudi Arabian girl with intrauterine growth retardation, hypoparathyroidism, and growth hormone deficiency. Treatment with recombinant human growth hormone and 1-alpha-cholecalciferol improved her growth and controlled hypocalcemia.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Metabolic Disorders
Background:
- Presents a rare case of intrauterine growth retardation (IUGR) with hypoparathyroidism and growth hormone deficiency in a Saudi Arabian child.
- Highlights the genetic implications of consanguineous mating in rare pediatric syndromes.
- Compares clinical findings to previously reported Saudi Arabian and Kuwaiti cohorts, noting significant differences.
Observation:
- The patient exhibited minor anomalies, delayed development, and primary hypoparathyroidism with undetectable parathyroid hormone levels but a normal renal response.
- Growth hormone (GH) stimulation tests showed subnormal responses to arginine and L-dopa, but a normal response to clonidine.
- Pituitary hormone responses to gonadotropin-releasing hormone (GHRH) and thyrotropin-releasing hormone (TRH) were normal, indicating isolated GH deficiency.
Findings:
- Treatment with recombinant human GH (rhGH) resulted in significant increases in height and weight.
- Supplemental 1-alpha-cholecalciferol effectively managed hypocalcemia.
- The patient's condition underscores a specific genetic etiology possibly linked to Saudi Arabian populations.
Implications:
- Early diagnosis and intervention with rhGH are crucial for improving growth outcomes in children with GH deficiency.
- Management of associated hypoparathyroidism and hypocalcemia with vitamin D analogs is essential for overall patient health.
- Further research into the genetic basis of this syndrome in the Saudi Arabian population is warranted to understand its prevalence and specific mechanisms.
Abstract:
A 5 1/2-year-old Saudi Arabian girl presented with a syndrome of intrauterine growth retardation, minor anomalies, hypoparathyroidism, and growth hormone deficiency. She was the product of a consanguineous mating. Her minor anomalies and delayed development were similar to findings in a previously reported Saudi Arabian patients with hypoparathyroidism and growth deficiency. There were substantial differences in findings from a series of Kuwaiti children. Parathyroid hormone was undetectable, but the renal response to infused parathyroid hormone was normal, indicating primary hypoparathyroidism. In response to arginine stimulation, her GH rose to 5.8 ng/ml (5.8 micrograms/L) (nl > 10), and to 2.3 ng/ml (2.3 micrograms/L) after L-dopa. Following clonidine it rose to 15 ng/ml (15 micrograms/L) at 120 minutes. She responded normally to infusions of GHRH (GH rose to 22 ng/ml (22 micrograms/L) at 75 minutes) and TRH (TSH rose to 37 mu u/ml, 37 mIU/L). On treatment with recombinant human growth hormone, she showed an increase in height and weight. Hypocalcemia was well controlled with supplemental 1-alpha-cholecalciferol.