Fertility and sterility · 2012
PROKR2 mutations in autosomal recessive Kallmann syndrome.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Tommiska Johanna, Toppari Jorma, Vaaralahti Kirsi, Känsäkoski Johanna, Laitinen Eeva-Maria, Noisa Parinya, Kinnala Anne, Niinikoski Harri, Raivio Taneli
Аннотация
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.
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.