Figure 1
Pedigree and the patient. (A) Pedigree of the family with the Simpson-Golabi-Behmel syndrome. The proband is indicated by an arrow (B, C, D, E, F). Craniofacial features and trunk and hand abnormalities of the patient. Note the abnormal tongue shape. Circles indicate supernumerary nipples.
Table 1
Endocrine evaluation of the patient with the GPC3 c.185delT mutation.
| Laboratory Test | Patient Value | Normal Range | Comment |
|---|---|---|---|
| Follicle-stimulating hormone | 3.16 IU/L | 1.50–12.40 IU/L (male) | normal |
| Luteinizing hormone | 7.27 IU/L | 1.70–8.60 IU/L (male) | normal |
| Prolactin | 46.65 ng/mL | 4.04–15.20 ng/mL | high |
| Testosterone | 4.77 ng/mL | 0.03–0.68 ng/mL | high |
| Estradiol | <5.00 ng/L | 25.80–60.70 ng/L (male) | low |
| Progesterone | 0.221 μg/L | 0.200–1.400 μg/L (male) | normal |
| Thyroid-stimulating hormone | 5.370 μIU/mL | 0.270–4.200 μIU/mL (male) | high |
| Free triiodothyronine | 4.54 pmol/L | 3.50–7.70 pmol/L | normal |
| Free thyroxine | 17.38 pmol/L | 12.00–22.00 pmol/L | normal |
| Adrenocortoctropic hormone | 48.19 pg/mL | 5.00–60.00 pg/mL | normal |
| Random cortisol | 278.20 nmol/L (8:00 a.m.); 125.60 nmol/L (4:00 p.m.) | 172.00–497.00 nmol/L (a.m.) 71.10–286.00 nmol/L (p.m.) | normal normal |
| Growth hormone | 1.65 ng/mL | 0.12–8.90 ng/mL | normal |
Figure 2
DNA sequencing results. (A) Wild-type GPC3 gene sequence. (B) The hemizygous GPC3 gene mutation, c.185delT, in the proband. (C) The heterozygous mutation carrier. Black frames indicate the c.185 nucleotide.