Diagnostic criteria The discovery of the<unk>  created a dilemma. The first diagnostic test for the syndrome was subjecting the suspected children to six month of growth hormone therapy.<unk>  was assumed to be a very rare disorder (officially recognized as an “orphan disease”). Researchers could not justify subjecting children to a trial period of growth hormone therapy to confirm the diagnosis of a rare syndrome. There is a need for a reliable and practical diagnostic procedure for the syndrome. Reliability of testing The standard test for growth hormone deficiency is the growth hormone stimulation test. Peak levels of growth hormone below normal are considered confirmation of a growth hormone deficiency. Growth-impaired children with a normal stimulation test were considered suspect for having the<unk>  that may benefit from treatment with growth hormone. Zadik et al. reported in 1990 that the growth hormone stimulation test is not reliable, suggesting the use of the more reliable 24-hour integrated concentration of growth hormone (IC-GH) as a better test. In 1995, it was also suggested that some cases of the neurosecretory growth failure syndrome might have the<unk> . Albertsson-Wikland Kerstin confirmed in 1992 that the IC-GH test is a reproducible test for growth hormone deficiency and Carel et al. confirmed in 1997 that the reliability of the growth hormone stimulation tests was poor. A 1987 study by Bistrizer et al suggested a diagnostic procedure that may be used to diagnose the<unk> . Their study was based on the requirement for the growth hormone molecule to bind a specific binding molecule on the wall of the responsive cells to elicit its activity. Their study demonstrated a decrease ability of the growth hormone from children with the<unk>  to bind with living IM-9 cells. The test involved measuring the ratio between the levels of growth hormone by a radioreceptor assay (RRA-GH) to the level of growth hormone determined by the established radioimmunoassay (RIA-GH). The study found that the RRA-GH/RIA-GH ratio in NS subjects was normal but significantly below normal (P<0.005) in the<unk>  patients. The authors proposed the use of their test for the diagnosis of the<unk> . Bistrizer, Chalew and<unk>  demonstrated in 1995 that a modified RRA-GH/RIA-GH ratio test was a predictor for the responsiveness of growth-impaired children to growth hormone therapy. The RRA-GH/RIA-GH ratio assay proposed by Bistrizer et al. can be used for screening of patients who may have the<unk>  thus more likely to respond to Growth Hormone therapy. Advances in the methodology for identifying spot mutations in the DNA of individuals demonstrated that the<unk>  is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule." Testing individual patient for such mutation is offered on the Internet.
Kowarski syndrome
Potocki–Lupski syndrome
Young–Madders syndrome
Tietze syndrome
Young's syndrome
Zieve's syndrome
Haim–Munk syndrome
Catel–Manzke syndrome