Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
J. Clin. Invest. John Falardeau, et al. 118:2822 doi:10.1172/JCI34538 [
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Figure 3Response to GnRH therapy in 3 probands harboring an
FGF8 mutation.
(
A) Pulsatile GnRH was administered at a dose of 100 ng/kg i.v. at a physiologic frequency to the proband described in case 1, demonstrating a normal increase in LH and FSH, an increase in E
2 consistent with development of 2 follicles, and an increase in progesterone (Prog) consistent with ovulation. Data are centered to the day of ovulation (0 d); for E
2, follicle diameters are indicated; shaded areas represent mean ± 1 SD hormone levels in 109 control women; boxed regions at top denote GnRH pulse frequency. (
B) LH, FSH, and T responses to GnRH therapy in 2 male patients (cases 2 and 6). Horizontal lines denote lowest value of the normal range for adult serum T levels. To convert serum T values from ng/dl to nmol/l, divide by 28.84.