Short stature due to growth hormone qualitative anomaly
MONDO:0009879Short stature due to growth hormone qualitative anomaly is characterized by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.
Also known as: Kowarski syndrome, Biodefective Growth hormone, KOWARSKI syndrome, pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin
9 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
-
NIH launches major study to unravel hormone mysteries
Knowledge-focused Recruiting nowThis study at the National Institutes of Health is looking at 1,000 adults with known or suspected hormone gland (endocrine) disorders. The goal is to better understand these conditions and help train doctors. Participants may receive tests, treatments, or surgery as part of thei…
Sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) • Aim: Knowledge-focused
Last updated Jul 02, 2026 00:00 UTC
-
Massive study aims to unlock genetic secrets of childhood hormone disorders
Knowledge-focused Recruiting nowThis study enrolls up to 15,000 children with known or suspected endocrine or metabolic disorders, along with their family members. Researchers will collect medical records, blood, saliva, and other samples to identify genetic changes linked to these conditions. The goal is to be…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:02 UTC
-
Scientists launch major study to unravel hormone disorders
Knowledge-focused Recruiting nowThis study enrolls adults with known or suspected endocrine (hormone gland) disorders, such as diabetes or thyroid disease, to help researchers learn more about these conditions. Participants will undergo medical exams, blood and imaging tests, and possibly genetic testing. The m…
Sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:31 UTC
-
Can a simple questionnaire predict who will follow their treatment?
Knowledge-focused Recruiting nowThis study is testing a tool called B-COMPASS that uses a 22-question survey to predict whether people will follow their prescribed treatments. Researchers will enroll 3100 adults with cardiovascular, endocrine, immune, nerve, cancer, or rare diseases across Europe. The goal is t…
Phase: NA • Sponsor: Technical University of Madrid • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC