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Kallmann syndrome in two sisters with other developmental anomalies also affecting their father
Author(s) -
Levy C. M.,
Knudtzon J.
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb04451.x
Subject(s) - kallmann syndrome , anosmia , medicine , hyperacusis , hypogonadotropic hypogonadism , coloboma , hearing loss , endocrinology , delayed puberty , anatomy , audiology , disease , covid-19 , hormone , infectious disease (medical specialty)
The classical features of Kallmann syndrome with anosmia and hypogonadotropic hypogonadism were observed in two sisters aged 13 and 19. They had additional malformations including anosmia, bilateral vesicoureteral reflux and unilateral hearing loss. One of the girls had unilateral coloboma of the optic nerve. The father had unilateral hearing loss and duplication of the left ureter; he died of an unrecognized coarctation of the aorta. He had no clinical signs of hypogonadism or anosmia. It is suggested that the malformations observed in these patients may be due to a dominant inherited defect of embryonic cell migration, resulting in different phenotypic expressions within the same family, including the Kallmann syndrome.