Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies

Am J Med Genet. 1994 Sep 1;52(3):334-8. doi: 10.1002/ajmg.1320520316.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Consanguinity
  • Female
  • Fetal Growth Retardation / genetics
  • Genes, Recessive
  • Growth Hormone / deficiency*
  • Growth Hormone / therapeutic use
  • Humans
  • Hypoparathyroidism / diagnosis
  • Hypoparathyroidism / genetics*
  • Recombinant Proteins / therapeutic use
  • Syndrome


  • Recombinant Proteins
  • Growth Hormone