TableĀ 1

Clinical data of three patients screened for two rare variants in POLR3B

SubjectReproductive phenotypePrimary DxAge at DxInitial treatmentNon-reproductive abnormalitiesPOLR3B variants
1Delayed puberty, delayed deepening of voice; normal size testesFertile eunuch of nIHH20Pulsatile GnRHHorizontal nystagmus, pectus excavusc.[1244T>C(;)2818A>T] p.[Met415Thr]
2Normal pubertal growth spurt, stalled breast development and pubic hair growth, primary amenorrhoeanIHH20OCPProtruding ears, high arched palate, micrognathia, kidney cystsc.[1244T>C(;)2633insT] p.[Met415Thr(;)L880SfsX41]
3aAbsent puberty, primary amenorrhoeanIHH18OCPNonec.[1568T>A];[1199T>C] p.[(Val523Glu)];[(Phe400Ser)]
3bAbsent pubertynIHH15Testosterone, then good response to gonadotropinsIQ 76c.[1568T>A];[1199T>C] p.[(Val523Glu)];[(Phe400Ser)]
  • nIHH, normosmic idiopathic hypogonadotropic hypogonadism; GnRH, gonadotropin-releasing hormone; OCP, oral contraceptive pill.