Clues to an early diagnosis of Kallmann syndrome.
Kallmann syndrome (KS) is defined by the association of idiopathic hypogonadotropic hypogonadism and anosmia/hyposmia. Diagnosis is frequently delayed, however, because hypogonadotropic hypogonadism is usually not apparent until puberty and individuals with anosmia/hyposmia are often unaware of this sensory deficit. Mutations in at least six genes have been associated with KS; however, the sensitivity of molecular testing is only about 30% and, therefore, the diagnosis is largely based on clinical findings. We describe the findings in six individuals with KS, which demonstrate the utility of associated anomalies in making this diagnosis. Analysis of our case series and literature review suggests the consideration of KS for males with microphallus and/or cryptorchidism and for any patient with hearing loss, renal agenesis, and/or synkinesis. Conversely, patients with features of KS should have an audiology evaluation and a renal ultrasound.
Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA. jkaplan@peds.umaryland
Julie D
JD
Kaplan
Jonathan A
JA
Bernstein
Andrea
A
Kwan
Louanne
L
Hudgins
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017436:Kallmann Syndrome / Q000175:diagnosis*; D008297:Male