Abstract：
OBJECTIVE:To investigate the mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism (IHH) and discover new pathogenic genes that cause IHH. DESIGN:A gene panel, including 31 known IHH genes and 52 candidate genes, was used to perform semiconductor next-generation sequencing. SETTING:University hospital. PATIENTS:One hundred thirty-eight sporadic male IHH patients and 10 IHH families; 100 healthy men with normal fertility served as control subjects. INTERVENTIONS(S):None. MAIN OUTCOME MEASURE(S):Targeted next-generation sequencing, polymerase chain reaction and sequencing, pedigree analysis, and bioinformatics analysis. RESULT(S):Variants were distributed uniformly throughout 52 genes (52/83, 62.65%), including 16 (16/31, 51.61%) causal genes and 36 (36/52, 69.23%) candidate genes. Six new pathogenic variants and 52 likely pathogenic variants were identified in 16 genes known to cause nIHH/KS (normosmic IHH/Kallmann syndrome). In the 148 probands, PROKR2 (22/148, 14.86%), CHD7, FGFR1, and KAL1 had high mutation rates, and 8.78% (13/148) of the patients carried at least two variants in known genes. In addition, variants were identified in 36 candidate genes, and EGFR, ERBB4, PAX6, IGF1, SEMA4D, and SEMA7A should be prioritized for further research and genetic testing in IHH. CONCLUSION(S):The mutation frequency of IHH-causal genes in Chinese HAN males was different from the data reported in white populations. Oligogenic inheritance was a common phenomenon in IHH. Our study expands the mutation profile for IHH, and the new likely pathogenic genes identified in our study warrant further research in GnRH neuronal networks.
journal_name
Fertil Steriljournal_title
Fertility and sterilityauthors
Zhou C,Niu Y,Xu H,Li Z,Wang T,Yang W,Wang S,Wang DW,Liu Jdoi
10.1016/j.fertnstert.2018.04.010subject
Has Abstractpub_date
2018-08-01 00:00:00pages
486-495.e5issue
3eissn
0015-0282issn
1556-5653pii
S0015-0282(18)30335-2journal_volume
110pub_type
杂志文章abstract：:Daily early morning urine samples were collected from women receiving donor artificial insemination and were evaluated for estrone conjugates, pregnanediol-3-glucuronide, and human chorionic gonadotropin. All hormone concentrations in urine were indexed by creatinine levels and expressed as the concentration of hormon...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(16)48613-9
更新日期：1985-06-01 00:00:00
abstract：OBJECTIVE:To study nucleation status in two- and four-cell embryos and its effect on reproductive outcomes. DESIGN:Retrospective cohort study. SETTING:University-affiliated private center. PATIENT(S):A total of 1,679 embryos from 940 oocyte donation cycles from May 2012 to May 2014. INTERVENTION(S):None. MAIN OUTC...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2016.03.036
更新日期：2016-08-01 00:00:00
abstract：OBJECTIVE:To evaluate the effects on the lipid pattern and insulin sensitivity of hirsute women of an oral contraceptive pill containing 30 microg of ethinyl estradiol and 150 microg of desogestrel. DESIGN:Prospective clinical study. SETTING:Tertiary care institutional hospital. PATIENT(S):16 hirsute women. INTERVE...
journal_title：Fertility and sterility
pub_type： 临床试验,杂志文章
doi：10.1016/s0015-0282(00)00718-4
更新日期：2000-10-01 00:00:00
abstract：OBJECTIVE:To introduce a combined laparovaginal metroplasty approach to the treatment of bicornuate uterus. DESIGN:Case report. SETTING:Private community hospital. PATIENT:A nulliparous patient with three recurrent spontaneous midtrimester abortions and a double uterus on hysterosalpingogram was evaluated laparoscop...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(16)58235-1
更新日期：1996-04-01 00:00:00
abstract：:D-group chromosome translocations have been associated in isolated cases with infertility in males. In this study, we demonstrated the effect of a translocated D-group chromosome on spermatogenesis as it had segregated among three male members of one family. Although the father, who carried the translocation, was obvi...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(16)41651-1
更新日期：1976-02-01 00:00:00
abstract：:The initial experience with the use of a portable infusion pump for the delivery of human menopausal gonadotropins (hMG) in the therapy of ovulation dysfunction of women who failed to conceive following (1) either clomiphene citrate (five patients with polycystic ovary syndrome) or danazol (three patients with mild en...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(16)47352-8
更新日期：1983-10-01 00:00:00
abstract：OBJECTIVE:To evaluate the effect of growth differentiation factor-9 (GDF-9) and bone morphogenetic protein-15 (BMP-15) on the development of follicles among patients with polycystic ovary syndrome (PCOS). DESIGN:Case-control study. SETTING:University Hospital. PATIENT(S):Twenty-two oocytes were obtained from 15 pati...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2009.03.014
更新日期：2010-06-01 00:00:00
abstract：:In confirmation of several reports, suspensions of normal washed human spermatozoa exposed to a nonionic detergent exhibited considerable activity of the enzyme protein O-carboxylmethyltransferase (PCM), which catalyzes the methyl esterification of carboxyl groups of dicarboxylic amino acid residues in proteins. Vario...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：
更新日期：1985-04-01 00:00:00
abstract：OBJECTIVE:To assess semen analysis, testicular volume, and hormone levels in fertile and infertile patients with varicoceles and fertile men without varicoceles. DESIGN:Retrospective study. SETTING:Academic medical center. PATIENT(S):Patients were divided into three groups: fertile men with varicoceles (n = 79), inf...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2004.06.047
更新日期：2005-01-01 00:00:00
abstract：OBJECTIVE:To determine whether estrogen down-regulates MCP-1 in vascular endothelial cells. DESIGN:A prospective comparative study. SETTING:Academic research environment. PATIENT(S):Human umbilical vein endothelial cells (n = 3) and human coronary artery endothelial cells (n = 3) obtained from females. INTERVENTION...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(01)03223-x
更新日期：2002-03-01 00:00:00
abstract：:Inflammatory exudates around intrauterine devices were found to produce large concentrations of prostaglandin F2alpha. To evaluate the effect of this substance, 100 semen specimens were incubated in concentrations 100 times greater than that found in normal semen. Motility indices were calculated, and significant inhi...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：
更新日期：1977-01-01 00:00:00
abstract：OBJECTIVE:To measure the flow velocity of the uterine and ovarian arteries through the menstrual cycle to determine there are changes. DESIGN:Serial measurements throughout the menstrual cycle in women attending an infertility clinic, compared with volunteers coming for annual examinations. Transvaginal ultrasound-col...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(16)54657-3
更新日期：1991-11-01 00:00:00
abstract：:A prospective study of carbohydrate metabolism was carried out on seven women by using an oral glucose tolerance stimulation test and measuring blood glucose and plasma insulin values over a 3-hour time period. The test was performed before and after 6 months of treatment with a "low-estrogen" oral contraceptive conta...
journal_title：Fertility and sterility
pub_type： 临床试验,杂志文章
doi：10.1016/s0015-0282(16)42747-0
更新日期：1977-08-01 00:00:00
abstract：OBJECTIVE:To evaluate endocrine characteristics and clinical outcomes in normal ovulatory patients undergoing controlled ovarian hyperstimulation (COH) with the use of a Duphaston and hMG protocol during in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) treatments in combination with frozen-thawed em...
journal_title：Fertility and sterility
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.fertnstert.2017.06.017
更新日期：2017-09-01 00:00:00
abstract：OBJECTIVE:To test the hypothesis that, in couples with unexplained infertility, tubal flushing with an oil-soluble media (lipiodol) would increase the pregnancy rate within 6 months compared with expectant management. DESIGN:A prospective, randomized, controlled study in which couples were allocated to either a single...
journal_title：Fertility and sterility
pub_type： 临床试验,杂志文章,多中心研究,随机对照试验
doi：10.1016/s0015-0282(01)02925-9
更新日期：2002-01-01 00:00:00
abstract：:The predictive value of the metoclopramid-provocation test to detect transient hyperprolactinemia during cycle stimulation was assessed. Patients developing hyperprolactinemia during cycle stimulation showed a significantly higher PRL response to the metoclopramid-provocation test before cycle stimulation. The current...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(16)53300-7
更新日期：1990-02-01 00:00:00
abstract：OBJECTIVE:To determine the effects of dietary carrots and retinoic acid on P secretion in the in vitro perfused rabbit ovary. DESIGN:Controlled experiment. SETTING:Laboratory. SUBJECTS:Sexually mature New Zealand white rabbits. INTERVENTION(S):Experiments were done in vitro using an isolated rabbit ovarian perfusio...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(97)81529-4
更新日期：1997-08-01 00:00:00
abstract：:Under guidance of an external pulsed magnetic field the Cuproferrogel iron oxide-copper-styrene maleic anhydride-dimethyl sulphoxide delivered into the rat/rabbit oviduct resulted in oocytes with granulated cytoplasm, zona enlargement, membrane disintegration, and finally loss of viability in 72 hours. Also, the perce...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2010.06.032
更新日期：2010-12-01 00:00:00
abstract：:Seminal plasma (n = 12) from cystic fibrosis (CF) patients were analyzed by gel-electrophoresis using seminal plasma and expressed prostatic secretion from fertile men as controls. Heavy precipitation at the entering position of the gel and streaking in the gel matrix was observed, demonstrating a reduced solubility o...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(16)53354-8
更新日期：1990-03-01 00:00:00
abstract：OBJECTIVE:To compare the effects of solid barriers (PDLA membrane and foil, Interceed), innovative barrier solutions (Adept and Hyalobarrier Gel, phospholipid emulsion), and Ringer's lactate solution in preventing postsurgical peritoneal adhesions in the rat. DESIGN:Prospective, randomized experimental study. SETTING...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2006.05.023
更新日期：2006-10-01 00:00:00
abstract：OBJECTIVE:To evaluate the effect of melatonin both on the ovaries of pinealectomized female rats through histomorphometric analysis and on steroid receptors, proliferating cell nuclear antigen (PCNA), and vascular endothelial growth factor (VEGF) expression. DESIGN:Experimental study. SETTING:Federal University of Sã...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2010.04.042
更新日期：2011-03-15 00:00:00
abstract：:We wished to verify whether semen processing by discontinuous double-layered density gradient centrifugation could improve sperm apoptotic DNA fragmentation rates using a commercially available deoxynucleotidyl transferase-mediated deoxyuridine triphosphate nick end labeling assay in 35 consecutive men presenting for ...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2007.01.059
更新日期：2008-09-01 00:00:00
abstract：OBJECTIVE:To investigate the relationship between economic activities, insurance mandates, and the use of in vitro fertilization (IVF) in the United States. DESIGN:We examined the correlation between the coincident index (a proxy for overall economic conditions) and IVF use at the national level from 2000 to 2011. We ...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2014.10.042
更新日期：2015-02-01 00:00:00
abstract：OBJECTIVE:To evaluate the diagnostic value of the crushed glass appearance of particles observed on roentgenogram after hysterosalpingography in patients with pelvic abnormalities. DESIGN:Retrospective study of 32 patients whose roentgenogram had particles with a crushed glass appearance and 16 patients without crushe...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(97)00415-9
更新日期：1997-12-01 00:00:00
abstract：OBJECTIVE:To present a report on assisted reproductive technologies (ART) cycles performed in 2005 in Canada. This is the fifth annual report from the Canadian ART Register (CARTR). DESIGN:Prospective cohort study. SETTING:Twenty-five of 25 ART centers in Canada. PARTICIPANT(S):Couples undergoing ART treatment in Ca...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2008.02.125
更新日期：2009-05-01 00:00:00
abstract：:We found the prevalence of ovarian cancer in infertile women less than 40 years at the time of planned microsurgery for infertility to be 1 in 95. This may represent a greater prevalence of ovarian cancer than that of all women less than 40 years. Importantly, laparoscopy did not find the ovarian cancer in these women...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：
更新日期：1988-03-01 00:00:00
abstract：OBJECTIVE:To investigate chorionic villous vasculogenesis (maturation) and development of the vasculosyncytial membrane (margination) using CD34 immunohistochemistry. DESIGN:Case-control study. SETTING:Microscopic analysis of first trimester chorionic villi. PATIENT(S):Twelve patients with anembryonic pregnancies, 1...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2004.02.119
更新日期：2004-09-01 00:00:00
abstract：:Six men, ages 18 to 34 years, with hypothalamic hypogonadotropism were treated with D-Trp6-luteinizing hormone-releasing hormone (10 micrograms intramuscularly on alternate days) for a period of 6 months. They underwent an intravenous luteinizing hormone-releasing hormone (LH-RH) test (50 micrograms/sq m) before and a...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(16)45381-1
更新日期：1981-03-01 00:00:00
abstract：OBJECTIVE:To determine the relative efficacy of ultrasound-guided embryo transfer and embryo transfer by clinical touch alone. DESIGN:Systematic review and meta-analysis of randomized, controlled trials comparing ultrasound-guided embryo transfer with embryo transfer by clinical touch alone. SETTING:Infertility cente...
journal_title：Fertility and sterility
pub_type： 杂志文章,meta分析,评审
doi：10.1016/s0015-0282(03)01015-x
更新日期：2003-10-01 00:00:00
abstract：OBJECTIVE:To evaluate prospectively the effects of high-dose, short-term treatment with a glucocorticoid in an attempt to normalize ovarian failure and induce pregnancy in women presenting with infertility. DESIGN:Uncontrolled, nonrandomized prospective study. SETTING:Two university-based reproductive endocrinology c...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(16)55915-9
更新日期：1993-05-01 00:00:00
