RESUMO
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.
Assuntos
Síndrome de Kallmann/genética , Mutação de Sentido Incorreto , Receptores Acoplados a Proteínas G/genética , Receptores de Peptídeos/genética , Adolescente , Saúde da Família , Feminino , Genótipo , Humanos , Masculino , Fenótipo , Receptores Acoplados a Proteínas G/metabolismo , Receptores de Peptídeos/metabolismo , Células de Sertoli/fisiologia , Irmãos , Transdução de Sinais/genéticaRESUMO
Insulin-induced lipoatrophy is a rare but serious complication of insulin treatment. Its incidence decreased during 1970' and 1980's, but several reports of this phenomenon have again recently been published. Traditional treatment options have included injecting insulin or pump cannula to the area surrounding the lipoatrophy or changing the insulin type or preparation. In this report we present 4 children who developed severe lipoatrophy during insulin pump treatment. Changing injection sites did not help but lipoatrophy disappeared in one patient after changing the insulin preparation. In the three other patients no new atrophy sites have appeared after change in insulin preparation or simultaneous treatment with local pimecrolimus or sodium cromoglicate.
