Objective To determine if HESX1 mutations are present in patients with idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS). HESX1 mutations have previously been characterized in patients with septo-optic dysplasia (SOD), isolated growth hormone deficiency (IGHD), and combined pituitary hormone deficiency (CPHD). We hypothesized that IHH/KS represents a milder phenotypic variant of SOD. Design PCR-based DNA sequencing was performed on 217 well-characterized IHH/KS patients. Putative missense mutations were analyzed by sorting intolerant from tolerant (SIFT) and Clustal Ω. Setting An academic medical center Patients 217 IHH/KS and 192 controls Interventions DNA was extracted from patients and controls; genotype/phenotype comparisons were made Main Outcome Measures DNA sequence of HESX1, SIFT analysis, and ortholog alignment Results Two novel heterozygous missense mutations (p.H42Y and p.V75L) and previously reported heterozygous missense mutation p.Q6H in HESX1 were identified in 3/217 (1.4%) patients. All were males with KS. Both p.Q6H and p.H42Y were predicted to be deleterious by SIFT, while p.V75L was conserved in 8/9 species. No other IHH/KS gene mutations were present. Conclusions HESX1 mutations may cause KS in addition to more severe phenotypes. Our findings expand the phenotypic spectrum of HESX1 mutations in humans, thereby broadening its role in development.
INTRODUCTION: Intrauterine devices (IUDs) are a common choice for contraception. A cervical stabilization device is recommended to provide cervical traction and to reduce the uterocervical angle. The device instructions recommend using a single tooth tenaculum. A tenaculum is a traumatic clamp which causes bleeding at the clamp site. We hypothesized that use of an atraumatic Allis clamp would require less hemostatic interventions. METHODS: The study was a randomized control trial of 95 IUD insertions. The physicians were randomized to use the Allis clamp or a tenaculum for cervical stabilization. The primary outcome was cervical site bleeding after clamp removal. Other outcomes were the number of interventions required for hemostasis and success of IUD placement. Statistical analyses were performed using the Fisher exact test and Chi-squared test. RESULTS: Bleeding was present after clamp removal in 3 (6.3%) insertions using an Allis clamp and 26 (55.3%) insertions using a single tooth tenaculum, P<.0001. Bleeding was absent in 45 (93.8%) insertions using an Allis clamp and 21 (44.7%) insertions using a single tooth tenaculum, P<.0001. There was no difference in the number of interventions required for hemostasis when bleeding occurred after clamp removal. There was no difference in IUD insertion success rates between the two clamps. CONCLUSION: The Allis clamp can be successfully used in place of a single tooth tenaculum for cervical stabilization during IUD insertion. The Allis clamp is associated with less bleeding and less need for hemostatic interventions after clamp removal. The Allis clamp is a better device for cervical stabilization during IUD insertion.
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