[Proceedings: Hypogonadotropic hypogonadism with anosmia (Kallman-De Morsier syndrome) in 2 brothers, one of whom had XXY gonosomy (author's transl)].
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Biomedical subjects
Publications and source records attributed to J Sebaoun.
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In a 27 years old patient an iodotyrosine deiodinase defect was responsible for a profound hypothyroidism (T4-RIA: indetectable -- TSH: 190 microU/ml) associated with a large goiter (about 300 g). MIT and DIT secretions were measured from the urinary cumulative specific activities, and the molar MIT/DIT ratio was 2.2. The thyroidal iodine exchangeable pool was as low as 177 micrograms. In two comparable patients rendered euthyroid by Lipodol injection, total thyroidal 127I pool was around 40 mg and the MIT/DIT ratio was degraded to 7 suggesting a mild biosynthetic defect by iodine excess.
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Starting from 48 cases of gynecomastia, the authors report the following findings: -- Impairment of the testis function, as assessed by a low plasma level of testosterone, is rare. -- Basal values of gonadotropins are generally normal. -- Increased oestrogen urinary excretion and blood level are rarely found but, when present, they tend to decrease at successive evaluations. -- In six cases, plasmatic oestradiol can be suppressed by dexamethasone; although the small number of cases does not allow a definite conclusion, one might suggest a predominant adrenal source of plasmatic oestradiol.