Abstract
Introduction. Genital abnormalities such as micropenis, hypospadias, and cryptorchidism have been reported in Klinefelter's syndrome. We studied the biochemical and molecular characteristics of the androgen receptor (AR) in 5 patients with Klinefelter's syndrome (47,XXY) and a severe micropenis. Patients. Clinical, biochemical and molecular data are reported in the table below.
Methods. AR binding capacity was studied on genital skin fibroblasis and SSCP analyses were performed in exons 4-8 in order o delect any alterations within the androgen binding domain of the AR gene.
Results. The 5 patients exhibited a decreased amount of AR (mean = 258±36 fmol/mg DNA vs 650±200 fmol/mg DNA for N) compatible with the diagnosis of PAIS while the Kd of the AR were in normal range (mean = 0.7±0.2 nM vs 0.6±0.3 nM for N). Furthermore, no band shifts, characteristic of point mutations, were found by PCR coupled with SSCP. Known AR mutated exons detecled by SSCP were used as control.
Discussion. AR gene mutations have been reported in patients with partial androgen insensitivity syndrome and diminished receptor binding capacity. These mutations have been located within the androgen-binding domain. In these patients with Klinefelter's syndrome and severe micropenis, the decrease of AR binding capacity is in favor of PAIS. However, a diminution of AR gene expression responsible for the low amount of AR cannot be ruled out.
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Lumbroso, S., Chevalier, C., Belon, C. et al. KLINEFELTER'S SYNDROME AND MICROPENIS: PARTIAL ANDROGEN INSENSITIVITY SYNDROME (PAIS)?. Pediatr Res 33 (Suppl 5), S22 (1993). https://doi.org/10.1203/00006450-199305001-00116
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DOI: https://doi.org/10.1203/00006450-199305001-00116
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