Diagnosis of X-recessive Kallmann syndrome in early infancy. Evidence of hypoplastic rhinencephalon.
A 3-month-old infant presented with hypogonadism, a small penis and bilateral cryptorchidism. He showed an insufficient response of luteotropic hormone (LH) and follicle stimulating hormone (FSH) to luteotropic hormone releasing hormone (LHRH) and of testosterone to human chorionic gonadotropin. The maternal uncle had hypogonadism and anosmia and also showed an impaired LH and FSH response to LHRH. MRI examination showed hypoplasia of the rhinencephalon in both cases. These findings in the son and brother of the clinically unaffected mother suggest X-linked recessive inheritance.
Birnbacher
R
R
Department of Paediatrics, Endocrinology, University Hospital Vienna, Austria.
Wandl-Vergesslich
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K
Frisch
H
H
D000328:Adult; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D017436:Kallmann Syndrome / Q000175:diagnosis* / Q000235:genetics; D008032:Limbic System / Q000002:abnormalities* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D014960:X Chromosome