PDF(Pubmed)
Abstract：
UNASSIGNED: To report a case with a distinct difference between the ovarian reserve parameters of antimüllerian hormone (AMH) levels, antral follicle count (AFC), and follicle-stimulating hormone levels caused by a novel homozygous missense variant in the exon 1 of the AMH gene [NM_000479.4:c259G>A, p.(Val87Met)].
UNASSIGNED: Case report.
UNASSIGNED: Tertiary referral in vitro fertilization clinic.
UNASSIGNED: A 33-year-old woman, G4P4A0E0L4, with a BMI of 25.33 kg/m2, high AFC, and repeated extremely low systemic AMH levels, was detected and measured using multiple enzyme-linked immunosorbent assays.
UNASSIGNED: Antimüllerian hormone analysis with multiple assays, whole exome sequencing through next generation sequencing to diagnose the missense variant, and inhibin B measurement.
UNASSIGNED: Genetic counseling and two subsequent ovarian stimulations for successful fertility preservation.
UNASSIGNED: Detection of the [NM_000479.4:c259G>A, p.(Val87Met)] variant in the AMH gene. Retrieval and cryopreservation of four euploid blastocysts and 26 metaphase II oocytes.
UNASSIGNED: AMH gene mutations can lead to the absence of systemic AMH levels and might be discordant to other ovarian reserve markers like AFC, follicle-stimulating hormone, and inhibin B, without affecting the ovarian response to ovarian stimulation. Clinicians should not rely exclusively on AMH levels for ovarian stimulation. When severely reduced AMH levels are found in patients with high AFC, AMH variants should be suspected, and fertility treatments should be tailored adequately.
UNASSIGNED: Case report.
UNASSIGNED: Tertiary referral in vitro fertilization clinic.
UNASSIGNED: A 33-year-old woman, G4P4A0E0L4, with a BMI of 25.33 kg/m2, high AFC, and repeated extremely low systemic AMH levels, was detected and measured using multiple enzyme-linked immunosorbent assays.
UNASSIGNED: Antimüllerian hormone analysis with multiple assays, whole exome sequencing through next generation sequencing to diagnose the missense variant, and inhibin B measurement.
UNASSIGNED: Genetic counseling and two subsequent ovarian stimulations for successful fertility preservation.
UNASSIGNED: Detection of the [NM_000479.4:c259G>A, p.(Val87Met)] variant in the AMH gene. Retrieval and cryopreservation of four euploid blastocysts and 26 metaphase II oocytes.
UNASSIGNED: AMH gene mutations can lead to the absence of systemic AMH levels and might be discordant to other ovarian reserve markers like AFC, follicle-stimulating hormone, and inhibin B, without affecting the ovarian response to ovarian stimulation. Clinicians should not rely exclusively on AMH levels for ovarian stimulation. When severely reduced AMH levels are found in patients with high AFC, AMH variants should be suspected, and fertility treatments should be tailored adequately.
摘要：
■报告一例卵巢储备参数间存在明显差异的患者，窦卵泡计数（AFC），和由AMH基因外显子1的新型纯合错义变异引起的促卵泡激素水平[NM_000479.4:c259G>A,p.(Val87Met)]。
■病例报告。
■体外受精诊所三级转诊。
■一个33岁的女人,G4P4A0E0L4，BMI为25.33kg/m2，高AFC，并重复极低的全身AMH水平，使用多种酶联免疫吸附试验进行检测和测量。
■用多种方法分析安蒂美勒管激素，整个外显子组测序通过下一代测序来诊断错义变异，和抑制素B测量。
■遗传咨询和两次随后的卵巢刺激以成功保存生育力。
■检测[NM_000479.4:c259G>A，AMH基因中的p.(Val87Met)]变体。4个整倍体囊胚和26个中期II期卵母细胞的回收和冷冻保存。
■AMH基因突变可导致缺乏系统性AMH水平，并可能与其他卵巢储备标志物如AFC不一致，促卵泡激素,还有抑制素B,不影响卵巢对卵巢刺激的反应。临床医生不应仅依赖AMH水平进行卵巢刺激。当AFC高的患者发现AMH水平严重降低时，应该怀疑AMH变体，和生育治疗应充分定制。
■病例报告。
■体外受精诊所三级转诊。
■一个33岁的女人,G4P4A0E0L4，BMI为25.33kg/m2，高AFC，并重复极低的全身AMH水平，使用多种酶联免疫吸附试验进行检测和测量。
■用多种方法分析安蒂美勒管激素，整个外显子组测序通过下一代测序来诊断错义变异，和抑制素B测量。
■遗传咨询和两次随后的卵巢刺激以成功保存生育力。
■检测[NM_000479.4:c259G>A，AMH基因中的p.(Val87Met)]变体。4个整倍体囊胚和26个中期II期卵母细胞的回收和冷冻保存。
■AMH基因突变可导致缺乏系统性AMH水平，并可能与其他卵巢储备标志物如AFC不一致，促卵泡激素,还有抑制素B,不影响卵巢对卵巢刺激的反应。临床医生不应仅依赖AMH水平进行卵巢刺激。当AFC高的患者发现AMH水平严重降低时，应该怀疑AMH变体，和生育治疗应充分定制。
