X-linked adrenal hypoplasia congenita
MONDO:0010264A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.
Also known as: AHC, adrenal hypoplasia congenita, X-linked adrenal hypoplasia congenita, X-linked congenital adrenal hypoplasia, adrenal hypoplasia, congenital, X-linked recessive, AHC with HHG, AHC with isolated gonadotropin deficiency, Addison disease, X-linked
32 clinical trials for this condition and its sub-types.
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Broader categories
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Can an iPad game spot autism early?
Diagnosis CompletedThis study tested whether an iPad game (Play.Care) could help diagnose autism spectrum disorder (ASD) in children aged 2.5 to 5 years. The game measures how children move while playing, since movement differences may be early signs of autism. Researchers compared the game's resul…
Phase: NA • Sponsor: University of Strathclyde • Aim: Diagnosis
Last updated Jun 27, 2026 12:09 UTC
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New program aims to help siblings of chronically ill children
Symptom relief CompletedThis completed trial tested a 5-session group program for siblings and parents of children with chronic illness. The goal was to improve sibling mental health, family communication, and quality of life. 288 families participated, with some receiving the program immediately and ot…
Phase: NA • Sponsor: University of Oslo • Aim: Symptom relief
Last updated Jun 26, 2026 18:43 UTC
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Researchers measure breathing, strength, and quality of life in hospitalized endocrine patients
Knowledge-focused CompletedThis completed observational study at Uşak University examined 150 adults hospitalized in the endocrinology department. Researchers measured breathing, muscle strength, pain, fatigue, sleep quality, physical activity, balance, and nerve function. The goal was to better understand…
Sponsor: Uşak University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:30 UTC
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Could hidden nerve damage explain pain in kids with developmental delays?
Knowledge-focused CompletedThis completed study looked at whether children with neurodevelopmental disorders (like mitochondrial disease, cerebral palsy, or developmental delay) have fewer small nerve fibers in their skin, which could cause pain. Researchers took small skin biopsies from 203 children—some …
Sponsor: Heinrich-Heine University, Duesseldorf • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:00 UTC
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New screening tool aims to spot suicide risk in kids with autism
Knowledge-focused CompletedThis study tested a set of questions to better identify suicide risk in young people aged 8–17 with autism or other neurodevelopmental disorders. Researchers asked 278 participants and their parents about thoughts of self-harm and understanding of death. The goal was to create a …
Sponsor: National Institute of Mental Health (NIMH) • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC