ABSTRACT
We report on the first PGD performed for the m.14487 T>C mitochondrial DNA (mtDNA) mutation in the MT-ND6 gene, associated with Leigh syndrome. The female carrier gave birth to a healthy baby boy at age 42. This case adds to the successes of PGD for mtDNA mutations.
Subject(s)
DNA, Mitochondrial/genetics , Leigh Disease/diagnosis , Mutation , Female , Humans , Infant, Newborn , Leigh Disease/genetics , Male , Mitochondria/genetics , Pedigree , Pregnancy , Preimplantation Diagnosis , Treatment OutcomeABSTRACT
OBJECTIVE: To investigate the role of exogenous LH in controlled ovarian hyperstimulation for assisted reproductive technologies. DESIGN: Prospective randomized study. SETTING: SISMER fertility unit. PATIENT(S): Women showing a hyporesponsiveness to FSH under GnRH agonist down-regulation were randomized into three groups: group A (n = 54) received an increased dosage of FSH; group B (n = 54) was administered recombinant LH in addition to the increased dose of FSH; group C (n = 22) was given additional FSH and LH using hMG as a combined drug. Fifty-four age-matched women with no need to increase the FSH dose were included as a control group (D). INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Implantation and live birth rate per started cycles. RESULT(S): In group B, the pregnancy and implantation rates were statistically higher when compared with groups A and C and did not differ from the control group for normal response. The live birth rate was similar in groups B and D but was half as high in groups A and C. CONCLUSION(S): Hyporesponsiveness to FSH could be related to iatrogenic LH deficiency that, in turn, could affect oocyte competence. Addition of a small amount of recombinant LH is able to rescue oocyte competence to produce viable embryos.
