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Familial Kallmann syndrome with unilateral renal aplasia
Author(s) -
Wegenke J. D.,
Uehling D. T.,
Wear J. B.,
Gordon E. S.,
Bargman J. G.,
Deacon J. S. R.,
Herrma J. P. R.,
Opitz J. M.
Publication year - 1975
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.1399-0004.1975.tb00344.x
Subject(s) - kallmann syndrome , medicine , aplasia , endocrinology , disease , covid-19 , infectious disease (medical specialty)
On the basis of studies in two brothers and their double first cousin, the Kallman syndrome (KS) is discussed as an X‐linked syndrome of anosmic hypogonadotropic hypo‐gonadism. The anosmia is thought to represent agenesis or hypoplasia of the olfactory lobes, the mildest form of the alobar holoprosencephaly developmental field defect; this is supported by the finding of hypotelorism in two of the patients and their mother. The endocrine defect is thought to represent a hypothalamic abnormality of the luteinizing hormone releasing hormone; borderline normal intelligence may represent another pleio‐tropic CNS manifestation of the KS gene. All three affected males had unilateral renal aplasia, associated in one with ipsilateral abyence of the testis. The presence of at least two developmental field defects (involving the CNS and urogenital system) makes it likely that the KS is a true multiple congenital anomaly syndrome; this is supported by the finding of additional, mostly minor, anomalies reported by other investigators. Heterozygous females may also show manifestations of anosmia, hypogonadism, possibly even internal genital malformation; however, genetic heterogeneity of anosmic hypogonadism is pos?ible, and for the time being it is probably better to designate sporadic female cases of anosmic hypogonadism as examples of the olfacto‐genital syndrome of DeMorsier. Linkage studies are urgently needed to clear up the question of genetic heterogeneity and to help develop empiric recurrence risk figures in anosmic hypogonadism.