Abstract
The Kallman's syndrom is usually evocated at adolescence in front of the association of delayed puberty and anosmia. We recently observed 3 infants with extreme micropenis and bilateral cryptorchidism, in whom the diagnosis of Kallman's syndrom was suspected on 1) low plasma testosterone level (<0.15 ng/ml) and fail of this one to increase either spontaneously during the first trimester of life or after hCG stimulation test (3 × 500 U) 2) low basal LH value (<1.4 mU/ml) with insuffisant rise (<3.9 mU/ml) after LHRH (0.1 mg/m2) at 2 months of age. In addition a familial evocative history was present in the 3 cases. The mother of one infant was followed for a Kallman's syndrom. Anosmia with or without cryptorchidism was noted in the familial history of the 2 others. These data indicate that 1) because of evocative clinical and biological features the diagnosis of Kallman's syndrom may be made early in infancy 2) an autosomic dominant mode of inheritance of this syndrom is involved.
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Evain, D., Gendrel, D., Bozzola, M. et al. Early diagnosis of Kallman's syndrom in male infants. Pediatr Res 15, 1563 (1981). https://doi.org/10.1203/00006450-198112000-00171
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DOI: https://doi.org/10.1203/00006450-198112000-00171