Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The androgen theory of autism proposes that autism spectrum conditions (ASC) are in part due to elevated fetal testosterone (FT) levels, which are positively correlated with a number of autistic traits and inversely correlated with social development and empathy. A medical questionnaire was completed by n=54 women with ASC, n=74 mothers of children with ASC, and n=183 mothers of typically developing children to test whether women with ASC have an increased rate of testosterone-related medical conditions, and to see whether mothers of children with ASC show similar abnormalities, as part of the 'broader autism phenotype'. Compared to controls, significantly more women with ASC reported (a) hirsutism, (b) bisexuality or asexuality, (c) irregular menstrual cycle, (d) dysmenorrhea, (e) polycystic ovary syndrome, (f) severe acne, (g) epilepsy, (h) tomboyism, and (i) family history of ovarian, uterine, and prostate cancers, tumors, or growths. Compared to controls, significantly more mothers of ASC children reported (a) severe acne, (b) breast and uterine cancers, tumors, or growths, and (c) family history of ovarian and uterine cancers, tumors, or growths. These results suggest current hormone abnormalities in women with ASC and their mothers. Direct investigations of serum testosterone levels and genetic susceptibility to high testosterone production or sensitivity in women with ASC would illuminate the origin of these conditions. The relationship between FT and current testosterone levels also needs to be clarified. The present results may be relevant to understanding the increased male risk to developing autism.
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PMID:Elevated rates of testosterone-related disorders in women with autism spectrum conditions. 1746 45

Molecular and behavioural evidence points to an association between sex-steroid hormones and autism spectrum conditions (ASC) and/or autistic traits. Prenatal androgen levels are associated with autistic traits, and several genes involved in steroidogenesis are associated with autism, Asperger Syndrome and/or autistic traits. Furthermore, higher rates of androgen-related conditions (such as Polycystic Ovary Syndrome, hirsutism, acne and hormone-related cancers) are reported in women with autism spectrum conditions. A key question therefore is if serum levels of gonadal and adrenal sex-steroids (particularly testosterone, estradiol, dehydroepiandrosterone sulfate and androstenedione) are elevated in individuals with ASC. This was tested in a total sample of n=166 participants. The final eligible sample for hormone analysis comprised n=128 participants, n=58 of whom had a diagnosis of Asperger Syndrome or high functioning autism (33 males and 25 females) and n=70 of whom were age- and IQ-matched typical controls (39 males and 31 females). ASC diagnosis (without any interaction with sex) strongly predicted androstenedione levels (p<0.01), and serum androstenedione levels were significantly elevated in the ASC group (Mann-Whitney W=2677, p=0.002), a result confirmed by permutation testing in females (permutation-corrected p=0.02). This result is discussed in terms of androstenedione being the immediate precursor of, and being converted into, testosterone, dihydrotestosterone, or estrogens in hormone-sensitive tissues and organs.
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PMID:Increased serum androstenedione in adults with autism spectrum conditions. 2139 41

Vitamin A intoxication secondary to over-the-counter nutritional supplements and from its use in acne treatment has been described. However, there have been very few case reports of chronic hypervitaminosis A leading to hypercalcemia in the pediatric population. This paper describes a boy with hypercalcemia secondary to chronic vitamin A intoxication in the context of vitamin A usage for therapy of autism. In addition to discontinuation of vitamin A, hyperhydration, and furosemide, the hypercalcemia in this patient required the use of prednisone and pamidronate to normalize the calcium.
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PMID:Case of hypercalcemia secondary to hypervitaminosis a in a 6-year-old boy with autism. 2293 83

The microorganisms that inhabit humans are very diverse on different body sites and tracts. Each specific niche contains a unique composition of the microorganisms that are important for a balanced human physiology. Microbial cells outnumber human cells by tenfold and they function as an invisible organ that is called the microbiome. Excessive use of antibiotics and unhealthy diets pose a serious danger to the composition of the microbiome. An imbalance in the microbial community may cause pathological conditions of the digestive system such as obesity, cancer and inflammatory bowel disease; of the skin such as atopic dermatitis, psoriasis and acne and of the cardiovascular system such as atherosclerosis. An unbalanced microbiome has also been associated with neurodevelopmental disorders such as autism and multiple sclerosis. While the microbiome has a strong impact on the development of the host immune system, it is suspected that it can also be the cause of certain autoimmune diseases, including diabetes or rheumatoid arthritis. Despite the enormous progress in the field, the interactions between the human body and its microbiome still remain largely unknown. A better characterization of the interactions may allow for a deeper understanding of human disease states and help to elucidate a possible association between the composition of the microbiome and certain pathologies. This review focuses on general findings that are related to the area and provides no detailed information about the case of study. The aim is to give some initial insight on the studies of the microbiome and its connection with human health.
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PMID:Human Microbiome: When a Friend Becomes an Enemy. 2568 93

Tuberous sclerosis complex (TSC) is a neurocutaneous multisystemic syndrome most commonly affecting the skin, the brain, the kidneys, the lungs and the eyes. The diagnosis is based on clinical characteristics; 90% of patients have skin lesions and seizures are the initial symptom in 80% of patients. Patients with STB often show a high incidence of neuropsychiatric symptoms, including mental retardation, autism and learning difficulties. Epilepsy and brain and renal tumors are treated with aggressive therapeutic and surgical approaches. We report the case of a 13-year old girl, presenting with a 1-year history of acne resistant to therapy. Clinical examination showed symmetric grouped red papules with smooth surface on the central face and the chin (A). The objective clinical examination also showed frontal fibrous plaques (A), achromic macules on the upper limbs and grayish tumors in the periungual folds of the toes (B). During a new interview, patient's mother reported that these lesions had their onset when the patient was 5 years old, manifesting as seizures at the age of 2 years and disappearing at the age of 6 years, with good psychomotor development. The girl had a history of consanguinity but she had no other family history. Based on these major criteria, the diagnosis of Tuberous sclerosis complex was made. The patient underwent MRI of the brain showing intensely enhanced multiple bilateral subependymal and intraventricular nodules as well as signal abnormalities in the subcortical white matter at the level of the frontal, parietal and temporal area and linear abnormalities in the subcortical white matter. Thoracoabdominopelvic CT scan showed liver and renal lesions suggesting angiomyolipomas. Ophthalmologic examination, electrocardiogram and cardiac ultrasound were normal. Vascular laser treatment of angiofibromas, annual clinical monitoring and paraclinical monitoring every 3 years were proposed to the patient.
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PMID:[Tuberous sclerosis complex: the role of patient's history and clinical examination]. 3005 Jun 11