title: Maximal and submaximal treadmill tests in a young adult with fragile-X syndrome.
abstract: Fragile X syndrome is associated with expansion of a CGG triplet repeat in the FMR1 gene, which abolishes production of the FMRP protein. This abnormality is expressed as a number of neuro-endocrine disorders (the adrenal axis, macroorchidism) and the emergence of significant behavioural stress. Here, we report on the hormonal status of a young adult with fragile X syndrome, with a focus on catecholamine and cortisol changes during a submaximal treadmill test. The patient showed abnormally high epinephrine and norepinephrine concentrations. During a submaximal incremental test, cortisol levels were higher than the laboratory reference range. Although the submaximal incremental test has a significant "stressful" effect, this young adult was able to complete the entire protocol without any maladaptive behaviour or withdrawal.
authors.affiliation: UF de médecine du sport et des activités physiques, pôle physiologie-rééducation, clinique physiologie, sommeil, exercice, IFR1-recherche exercice santé, CHU Sud, avenue de Kimberley, 38130 Echirolles, France. vbricout@chu-grenoble.fr
authors.forename: V-A
authors.initials: VA
authors.lastname: Bricout
authors.forename: P
authors.initials: P
authors.lastname: Flore
authors.forename: Y
authors.initials: Y
authors.lastname: Eberhard
authors.forename: P
authors.initials: P
authors.lastname: Faure
authors.forename: M
authors.initials: M
authors.lastname: Guinot
authors.forename: A
authors.initials: A
authors.lastname: Favre-Juvin
mesh_terms: D004837:Epinephrine / Q000097:blood / Q000378:metabolism*; D005080:Exercise Test; D005600:Fragile X Syndrome / Q000097:blood / Q000503:physiopathology*; D006339:Heart Rate; D006728:Hormones / Q000097:blood; D006801:Humans; D006854:Hydrocortisone / Q000097:blood / Q000378:metabolism*; D007773:Lactates / Q000097:blood; D008297:Male; D009638:Norepinephrine / Q000097:blood / Q000378:metabolism*; D010101:Oxygen Consumption; D005082:Physical Exertion / Q000502:physiology*; D011659:Pulmonary Gas Exchange; D013312:Stress, Physiological; D055815:Young Adult
chemical_list: D006728:Hormones; D007773:Lactates; D006854:Hydrocortisone; D009638:Norepinephrine; D004837:Epinephrine