OBJECTIVE: To investigate the inheritance pattern of two missense PROKR2 changes within a single family.
DESIGN: This is a descriptive study.
SETTING: Tertiary referral center.
PATIENT(S): The proband and his brother, both with congenital hypogonadotropic hypogonadism and anosmia (Kallmann syndrome).
INTERVENTION(S): Clinical and biochemical evaluation of Kallmann syndrome. Sequence analysis of the coding exons and exon-intron boundaries of KAL1, FGFR1, FGF8, PROK2, and PROKR2 from polymerase chain reaction (PCR)-amplified genomic DNA. Recombinant human FSH treatment of the proband.
MAIN OUTCOME MEASURE(S): Phenotypic and genotypic features, and inhibin B response to recombinant human FSH.
RESULT(S): The proband and his brother were homozygous for two variants in PROKR2; a novel mutation c.701G >A (p.G234D), and a polymorphism c.802C >T (p.R268C). Recombinant human FSH therapy of the proband increased serum inhibin B from < 16 to 136 ng/L. The heterozygous parents were fertile and had six children.
CONCLUSION(S): These findings are consistent with recessive mode of inheritance. PROKR2 signaling does not directly affect Sertoli cell function.
Written by:
Tommiska J, Toppari J, Vaaralahti K, Känsäkoski J, Laitinen EM, Noisa P, Kinnala A, Niinikoski H, Raivio T. Are you the author?
Institute of Biomedicine/Physiology, University of Helsinki, Helsinki, Finland; Children's Hospital, Helsinki University Central Hospital, Helsinki, Finland.
Reference: Fertil Steril. 2012 Nov 29. pii: S0015-0282(12)02397-7.
doi: 10.1016/j.fertnstert.2012.11.003
PubMed Abstract
PMID: 23200691
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