Research Article
Posttranslational Modification Defects in Fibroblast Growth Factor Receptor 1 as a Reason for Normosmic Isolated Hypogonadotropic Hypogonadism
Table 2
The results of auxiliary examination on proband nIHH.
| | Clinical tests | Results (reference range) |
| | Laboratory results | | | FSH | 0.96 (1.27-19.26 mIU/ml) | | LH | 0.39 (1.24-8.62 mIU/ml) | | Testosterone | 0.01 ng/ml | | Prolactin | 12.67 (2.64-13.13 ng/ml) | | GnRH stimulation test | Exaggerated LH response to GnRH stimulation | | MRI examination of pituitary gland | Normal | | Ultrasound test of reproductive system | Bilateral hypoechoic inguinal nodules, cryptorchidism, and hypoplasia of testis |
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Abbreviations are as follows: nIHH—normosmic idiopathic hypogonadotropic hypogonadism; FSH—follicle-stimulating hormone; LH—luteinizing hormone; GnRH—gonadotropin-releasing hormone; MRI—magnetic resonance imaging.
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