TY  -  
T1  - GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency 
SN  -  /  
UR  - http://hdl.handle.net/10138/229916 
T3  -  
A1  - Hietamaki, Johanna; Hero, Matti; Holopainen, Elina; Kansakoski, Johanna; Vaaralahti, Kirsi; Iivonen, Anna-Pauliina; Miettinen, Paivi J.; Raivio, Taneli 
A2  -  
PB  -  
Y1  - 2017 
LA  - eng 
AB  - Biallelic, partial loss-of-function mutations in GNRHR cause a wide spectrum of reproductive phenotypes from constitutional delay of growth and puberty to complete congenital hypogonadotropic hypogonadism. We studied the frequency of GNRHR, FGFR1, TAC3, and TACR3 mutations in nine adolescent and young adult females with clinical cues consistent with partial gonadotropin deficiency (stalled puberty, unexplained secondary amenorrhea), and describe phenotypic features and molecular genetic findings... 
VO  -  
IS  -  
SP  -  
OP  -  
KW  - IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; FUNCTIONAL HYPOTHALAMIC AMENORRHEA; HOMOZYGOUS R262Q MUTATION; HORMONE RECEPTOR; DELAYED PUBERTY; CONSTITUTIONAL DELAY; DIAGNOSIS; REVERSAL; GROWTH; TESTOSTERONE; 3111 Biomedicine; 3123 Gynaecology and paediatrics 
N1  -   
PP  -  
ER  -