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Case Reports
. 2024 Oct 3;2(10):luae170.
doi: 10.1210/jcemcr/luae170. eCollection 2024 Oct.

Short Stature in Klinefelter Syndrome From Aggrecan Mutation

Antoinette Farrell  1 , Sunitha R Sura  1   2
Affiliations
Case Reports

Short Stature in Klinefelter Syndrome From Aggrecan Mutation

Antoinette Farrell et al. JCEM Case Rep. .

Abstract

Despite tall stature being a characteristic feature of Klinefelter syndrome, occasional cases of short stature have been reported. These cases are often attributed to GH deficiency. This case report details a unique case of a 16-year-old male with Klinefelter syndrome exhibiting proportionate short stature resulting from a heterozygous, likely pathogenic, variant in the ACAN gene c.7141G > A (p.Asp2381Asn). This specific variant, previously identified once in a family with a recessive inheritance pattern is reported here for the first time in an individual with Klinefelter syndrome. This report emphasizes the importance of a thorough evaluation and consideration of genetic testing for an underlying diagnosis in short-statured individuals with Klinefelter syndrome. Timely detection would enable appropriate therapeutic interventions.

Keywords: ACAN; Klinefelter syndrome; advanced bone age; aggrecan; growth; short stature.

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Figures

Figure 1.
Figure 1.
Centers for Disease Control and Prevention’s boys growth chart: height and weight.
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