ArticleAACE clinical case reports
A Family With Novel X-Linked Recessive Homozygous Mutation in
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0 citing papers in PubMed, 5 citations in OpenAlex.
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4 authors at 3 institutions in 1 country.
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Abstract
objectiveKallmann syndrome (KS) may be accompanied by anosmia or hyposmia and midline defects. We present an overweight 16-year-old boy with a lack of puberty, anosmia, congenital right eye ptosis, and normal intellectual function.
methodsTesticular ultrasonography was performed. Whole-exome sequencing was performed on peripheral blood specimens. Genetic results were confirmed by Sanger sequencing. Anosmia was evaluated quantitatively using the Korean version of the Sniffin' stick test II.
resultsOur patient presented with a complaint of lack of body hair growth and small penile size with no remarkable medical history. He was the second son of third-degree consanguineous healthy parents. Physical examination revealed pubertal Tanner stage I. Congenital right eye ptosis and obesity were noted. Anosmia was confirmed. The laboratory evaluation revealed a low serum level of testosterone, follicle-stimulating hormone, and luteinizing hormone. An X-linked recessive homozygous mutation, c.628_629 del (p.1210fs∗) in exon 5 of the
conclusionTo date, approximately 28
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