Clinical data of three patients screened for two rare variants in POLR3B
| Subject | Reproductive phenotype | Primary Dx | Age at Dx | Initial treatment | Non-reproductive abnormalities | POLR3B variants |
|---|---|---|---|---|---|---|
| 1 | Delayed puberty, delayed deepening of voice; normal size testes | Fertile eunuch of nIHH | 20 | Pulsatile GnRH | Horizontal nystagmus, pectus excavus | c.[1244T>C(;)2818A>T] p.[Met415Thr] |
| 2 | Normal pubertal growth spurt, stalled breast development and pubic hair growth, primary amenorrhoea | nIHH | 20 | OCP | Protruding ears, high arched palate, micrognathia, kidney cysts | c.[1244T>C(;)2633insT] p.[Met415Thr(;)L880SfsX41] |
| 3a | Absent puberty, primary amenorrhoea | nIHH | 18 | OCP | None | c.[1568T>A];[1199T>C] p.[(Val523Glu)];[(Phe400Ser)] |
| 3b | Absent puberty | nIHH | 15 | Testosterone, then good response to gonadotropins | IQ 76 | c.[1568T>A];[1199T>C] p.[(Val523Glu)];[(Phe400Ser)] |
nIHH, normosmic idiopathic hypogonadotropic hypogonadism; GnRH, gonadotropin-releasing hormone; OCP, oral contraceptive pill.