Mild stimulation using clomiphene citrate can be considered a realistic option to give patients with a good prognosis an excellent probability of pregnancy in a very short time period.
Anna Pia Ferraretti, Ph.D., Luca Gianaroli, M.D., Maria Cristina Magli, M.Sc., Paul Devroey, Ph.D.
Volume 104, Issue 2, Pages 333-338
To validate the use of clomiphene citrate in IVF when mild stimulation approaches are chosen to reduce patient discomfort, risk, and cost.
Prospective cohort study.
Private IVF clinic.
A total of 163 patients undergoing IVF and with a good prognosis (defined as ≤38 years old with normal ovarian reserve and normovulatory cycles, body mass index
Mild stimulation using a fixed protocol of clomiphene citrate (100 mg/d from cycle days 3 to 7) in combination with low doses of gonadotropins (150 IU of recombinant FSH on cycle days 5, 7, and 9) and GnRH antagonist.
Main Outcome Measure(s):
The cumulative delivery rate per patient after three fresh and/or frozen embryo transfers and time to pregnancy.
No dropouts were observed. The cumulative delivery rate was 70%, and the mean time to pregnancy was 2.4 months.
Mild stimulation using clomiphene citrate in combination with low doses of gonadotropins can be considered a realistic option for good-prognosis patients undergoing IVF.
Reproductive counselors could broaden care to a more collaborative approach involving education, training, and support to fertility clinic staff to help reduce staff stress, prevent burnout, and improve patient care.
Elizabeth Grill, Psy.D.
Volume 104, Issue 2, Pages 271-276
This review argues that mental health professionals are underutilized in the reproductive health care system. Counselors in the field of reproductive medicine could broaden their care from a strictly one-on-one patient care perspective to a more integrated and collaborative approach that also involves education, training, and support of the fertility clinic staff. The literature has shed light on reasons for patient discontinuation, but little is known about staff burnout in reproductive health care, and even less has been done to address work-related stress, job dissatisfaction, and poor emotional and physical health among fertility clinic staff. Specific educational strategies and training techniques are addressed to help reduce staff stress, prevent burnout, and improve overall patient care.
Whole exome sequencing identified homozygous mutation in NPAS2 in a family of men with nonobstructive azoospermia.
Ranjith Ramasamy, M.D., M. Emre Bakırcıoğlu, M.D., Cenk Cengiz, B.S., Ender Karaca, M.D., Jason Scovell, B.S., Shalini N. Jhangiani, M.S., Zeynep C. Akdemir, Ph.D., Matthew Bainbridge, Ph.D., Yao Yu, Ph.D., Chad Huff, Ph.D., Richard A. Gibbs, Ph.D., James R. Lupski, M.D., Ph.D., Dolores J. Lamb, Ph.D.
Volume 104, Issue 2, Pages 286-291
To investigate the genetic cause of nonobstructive azoospermia (NOA) in a consanguineous Turkish family through homozygosity mapping followed by targeted exon/whole-exome sequencing to identify genetic variations.
Whole-exome sequencing (WES).
Two siblings in a consanguineous family with NOA.
Validating all variants passing filter criteria with Sanger sequencing to confirm familial segregation and absence in the control population.
Main Outcome Measure(s):
Discovery of a mutation that could potentially cause NOA.
A novel nonsynonymous mutation in the neuronal PAS-2 domain (NPAS2) was identified in a consanguineous family from Turkey. This mutation in exon 14 (chr2: 101592000 C>G) of NPAS2 is likely a disease-causing mutation as it is predicted to be damaging, it is a novel variant, and it segregates with the disease. Family segregation of the variants showed the presence of the homozygous mutation in the three brothers with NOA and a heterozygous mutation in the mother as well as one brother and one sister who were both fertile. The mutation is not found in the single-nucleotide polymorphism database, the 1000 Genomes Project, the Baylor College of Medicine cohort of 500 Turkish patients (not a population-specific polymorphism), or the matching 50 fertile controls.
With the use of WES we identified a novel homozygous mutation in NPAS2 as a likely disease-causing variant in a Turkish family diagnosed with NOA. Our data reinforce the clinical role of WES in the molecular diagnosis of highly heterogeneous genetic diseases for which conventional genetic approaches have previously failed to find a molecular diagnosis.