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    1 OF 57

    Evaluation of the quality of life of pregnant women from 2005 to 2015.
    Eur J Obstet Gynecol Reprod Biol 2017 May 10;214:115-130. Epub 2017 May 10.
    University Claude Bernard Lyon I, Laboratory Health - Individual - Society, Team P2S (EA 4129), 7-11 rue Guillaume Paradin, 69372 Lyon Cedex 08, France.
    Over the past two decades, quality of life has become an essential preoccupation in the care of patients. Many measuring instruments are available to assess physical, psychological and social quality of life. These tools allow healthcare professionals to determine the best quality of their patients. Read More

    Delay in estrogen commencement is associated with lower bone mineral density in Turner syndrome.
    Climacteric 2017 May 19:1-6. Epub 2017 May 19.
    b Department of Endocrinology , Monash Health , Clayton , VIC , Australia.
    Objective: Turner syndrome (TS) is associated with hypogonadism, osteoporosis and fractures. We investigated the prevalence and risk factors for low bone density and fractures in a TS cohort.

    Methods: We included 76 TS patients (median age 28. Read More

    [Transverse vaginal septum diagnosed in sisters. Cases report].
    Arch Argent Pediatr 2017 Jun;115(3):e150-e152
    Hospital de Palamós, Gerona, España.
    Transverse vaginal septum is a disorder that would arise from a failure in the fusion and/or channeling of the urogenital sinus and the müllerian ducts with low frequency but with a significant impact on the health of patients. The treatment is surgical and it will depend on the location and thickness of the septum. Sometimes, it described a female sex-limited autosomal recessive transmission but few cases of family association have been reported. Read More

    Premature Ovarian Insufficiency: An Adolescent Series.
    J Pediatr Adolesc Gynecol 2017 May 11. Epub 2017 May 11.
    1(st) Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Alexandra Hospital, Vas Sofias Avenue, 115 28 Athens, Greece. Electronic address:
    Study Objective: To study the presentation and causes of premature ovarian insufficiency (POI) in adolescents DESIGN: Retrospective notes review SETTING: Tertiary Referral Outpatient clinic for Pediatric and Adolescent Gynecology PARTICIPANTS: Adolescents with POI INTERVENTIONS: Standard POI evaluation MAIN OUTCOME MEASURES: Age and clinical symptoms at presentation, causative factor for POI, if identified.

    Results: We identified 22 girls with POI, with a mean age of 15.6. Read More

    Role of microRNAs in premature ovarian insufficiency.
    Reprod Biol Endocrinol 2017 May 12;15(1):38. Epub 2017 May 12.
    The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, 200030, China.
    Premature ovarian insufficiency (POI) is a typical disorder of amenorrhea lasting for a minimum of 4 months. The typical characteristics comprised of declined estrogen and raised serum concentrations of follicle-stimulating hormone (FSH) in women <40-year-old, primarily originating from iatrogenic factors, karyotypic abnormalities, and genetic factors. However, the etiology of POI remains unknown in approximately 90% of cases. Read More

    Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome.
    J Tehran Heart Cent 2016 Oct;11(4):187-191
    Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran.
    Mulibrey nanism is a rare autosomal recessive syndrome caused by a mutation in the TRIM37 gene with severe growth retardation and multiple organ involvement. Early diagnosis is important because 50% of the patients develop congestive heart failure owing to constrictive pericarditis, and this condition plays a critical role in the final prognosis. A 37-year-old female patient presented with symptoms of dyspnea on exertion and shortness of breath. Read More

    MRI characteristics of primary fallopian tube choriocarcinoma: a case report.
    Radiol Case Rep 2017 Jun 6;12(2):300-303. Epub 2017 Mar 6.
    PET-CT Center of The First Affiliated Hospital of Xi'an Jiaotong University, 277 Yanta West Road, Xi'an, Shannxi Province 710061, China.
    Tubal choriocarcinoma is uncommon, and its magnetic resonance imaging characteristics have not yet been reported. In this report, a 39-year-old woman presented with irregular painless vaginal bleeding and a palpable left lower abdominal lump for 2 months following 6 weeks' amenorrhea and positive urine pregnancy test. Her serum β-human chorionic gonadotropin value was significantly increased. Read More

    Swyer Syndrome With Gonadoblastoma: A Clinicoradiological Approach.
    J Hum Reprod Sci 2017 Jan-Mar;10(1):65-68
    Department of Obstetrics & Gynecology, Teerthanker Mahaveer Medical College & Research Centre, Teerthanker Mahaveer University, Moradabad, Uttar Pradesh, India.
    Primary amenorrhea is a common diagnostic challenge in the gynecology department, wherein there are numerous causes that need to be approached in a systematic manner. However, when a case with a pelvic lump or a solid pelvic mass presents to a gynecologist or a radiologist, the approach becomes difficult to justify amenorrhea and pelvic mass as a single entity. We present the case of a 36-year-old female with the complaints of primary amenorrhea with a pelvic mass. Read More

    Premature Ovarian Failure - An Unusual Manifestation of Systemic Sclerosis.
    J Hum Reprod Sci 2017 Jan-Mar;10(1):58-60
    Department of Medicine, Lady Hardinge Medical College and SSK Hospital, New Delhi, Delhi, India.
    A 31-year-old woman presented with secondary amenorrhoea and inability to conceive, which was of 3 years duration. She had Raynaud's phenomenon for 16 years, primary hypothyroidism for 5 years, digital ulcers for 4 years and skin tightening for 2 years. She had an expressionless face, with loss of wrinkles and restriction of the mouth opening along with flexion contractures of the hands and the terminal digit resorptions. Read More

    New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.
    PLoS One 2017 1;12(5):e0176720. Epub 2017 May 1.
    Department of Paediatrics and Adolescent Medicine, Division of Experimental Paediatric Endocrinology and Diabetes, University of Lübeck, Lübeck, Germany.
    Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia. Here we present the clinical follow up of four 46,XY DSD patients with three novel heterozygous mutations in the NR5A1 gene leading to a p.T40P missense mutation and a p. Read More

    Using kisspeptin to assess GnRH function in an unusual case of primary amenorrhoea.
    Endocrinol Diabetes Metab Case Rep 2017 27;2017. Epub 2017 Mar 27.
    Department of Endocrinology & Metabolism, Imperial College LondonUK.
    Summary: Primary amenorrhoea is defined as the failure to commence menstruation by the age of 15 years, in the presence of normal secondary sexual development. The potential causes of primary amenorrhoea extend from structural to chromosomal abnormalities. Polycystic ovarian syndrome (PCOS) is a common cause of secondary amenorrhoea but an uncommon cause of primary amenorrhoea. Read More

    Primary ovarian insufficiency with t(5;13): a case report and literature review on disrupted genes.
    Climacteric 2017 Apr 28:1-5. Epub 2017 Apr 28.
    b Reproductive Biotechnology Research Center , Avicenna Research Institute, ACECR , Tehran , Iran.
    Objectives: To report a woman with primary ovarian insufficiency (POI) with reciprocal translocation between chromosomes 5 and 13.

    Methods: Chromosomal analysis (G-banding) of a 39-year-old woman with elevated gonadotropin levels and secondary amenorrhea and review of the literature with a special focus on disrupted genes at the reported breakpoints.

    Results: A reciprocal translocation between the long arms of chromosomes 5 and 13 was identified in the patient (46,XX,t(5;13)(q13;q14)). Read More

    Selective progesterone receptor modulators (SPRMs) for uterine fibroids.
    Cochrane Database Syst Rev 2017 Apr 26;4:CD010770. Epub 2017 Apr 26.
    Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, 700 University Ave - 3rd Floor, Toronto, ON, Canada, M5G 1Z5.
    Background: Uterine fibroids are smooth muscle tumours arising from the uterus. These tumours, although benign, are commonly associated with abnormal uterine bleeding, bulk symptoms and reproductive dysfunction. The importance of progesterone in fibroid pathogenesis supports selective progesterone receptor modulators (SPRMs) as effective treatment. Read More

    [Calcium and bone metabolism across women's life stages. Bone metabolism of women in primary amenorrhea.]
    Clin Calcium 2017 ;27(5):653-660
    Department of Nursing Science, Hirosaki University Graduate School of Health Sciences, Aomori, Japan.
    For development of the bone during adolescence, the increased estrogen plays an important role especially in young women as well as GH/IGF-Ⅰ system. Although primary amenorrhea can be caused by various pathological factors, almost of cases have a dysfunction of estrogen secretory systems. For Turner syndrome, which is well-known disease with primary amenorrhea,it is generally recommended that the estrogen therapy is started at adolescence and gradually increased up to adult dose level. Read More

    Treatment strategies for the female athlete triad in the adolescent athlete: current perspectives.
    Open Access J Sports Med 2017 4;8:85-95. Epub 2017 Apr 4.
    Department of Orthopedics and Rehabilitation, University of Wisconsin-Madison, Madison, WI, USA.
    Since the passage of Title IX in 1972, female sports participation has dramatically increased. The benefits of physical activity, including decreased risk for heart disease and diabetes as well as improved body image and self-esteem, far outweigh the risks. However, a select population of adolescent and young adult females may experience symptoms related to the female athlete triad (Triad), which refers to the interrelatedness of energy availability, menstrual function, and bone mineral density (BMD). Read More

    Mullerian dysgenesis: a critical review of the literature.
    Arch Gynecol Obstet 2017 Jun 22;295(6):1369-1381. Epub 2017 Apr 22.
    Surgery Working Group, Society of Junior Doctors, Athens, Greece.
    Purpose: To present an update of the genetic, clinical, diagnostic, and therapeutic aspects of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.

    Methods: Studies were considered eligible if they have evaluated patients with MRKH syndrome. Eligible articles were identified by a search of MEDLINE bibliographical database from 1950 to August 2016. Read More

    Late pubertal growth spurt in a girl with growth hormone deficiency: Is Kaufmann therapy effective in a girl with short stature who responds poorly to growth hormone therapy and estrogen-replacement therapy?
    J Obstet Gynaecol Res 2017 Apr 19. Epub 2017 Apr 19.
    Department of Obstetrics and Gynecology, Kansai Medical University Medical Center, Osaka, Japan.
    A Japanese senior high school girl aged 18 years and 5 months with growth hormone deficiency was referred for primary amenorrhea. Her height was 1.36 m, and her bodyweight was 23. Read More

    [Progress in research on meiotic genes underlying primary ovarian insuffiency].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Apr;34(2):284-288
    Department of Medical Genetics, Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.
    Primary ovarian insuffiency (POI), which accounts for female infertility, is characterized by amenorrhea before the age of 40 and high serum level of follicular stimulating hormone (>40 U/L) at two measurements taken at least one month apart. The disorder is believed to have a strong genetic component. A large number of candidate genes have been proposed, though few of them were extensively studied. Read More

    Whole-exome sequencing identifies a homozygous donor splice site mutation in STAG3 that causes primary ovarian insufficiency.
    Clin Genet 2017 Apr 10. Epub 2017 Apr 10.
    Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha, Hunan, 410078, People's Republic of China.
    Primary ovarian insufficiency (POI) is the depletion or loss of normal ovarian function, which cause infertility in women before the age of 40 years. Two homozygous germline truncation mutations in STAG3 gene had been reported to causes POI in consanguineous families. Here, we aimed to identify the genetic cause of POI in two affected sisters manifested with primary amenorrhea and partial development of secondary sexual characters with normal range of height of a consanguineous Han Chinese family. Read More

    Bilateral Sertoli Cell Tumors in a Patient with Androgen Insensitivity Syndrome.
    Case Rep Obstet Gynecol 2017 13;2017:8357235. Epub 2017 Mar 13.
    Department of Obstetrics and Gynecology, Santa Casa de Misericórdia, Vitória, ES, Brazil.
    Androgen insensitivity syndrome is the most common cause of male pseudohermaphroditism and the third most common cause of primary amenorrhea. This genetic alteration is a consequence of inherited defects on the X chromosome causing total or partial damage to the intrauterine virilization process due to functional abnormalities in the androgen receptors. The present report describes a 22-year-old patient with a female phenotype and a 46, XY karyotype, presenting with bilateral inguinal tumors. Read More

    Mullerian Agenesis Associated with Turner's Syndrome.
    J Clin Diagn Res 2017 Feb 1;11(2):TD01-TD02. Epub 2017 Feb 1.
    Junior Resident, Department of Radio-Diagnosis, Sri Manakula Vinayagar Medical College and Hospital , Madagadipet, Puducherry, India .
    Turner's syndrome is a chromosomal disorder with 45 X0 due to absence of a set of gene from the short arm of X chromosome. The incidence of Turner's syndrome is 1 in 2500 live births. Primary amenorrhea is well known in Turner's syndrome, the reason being streak ovaries; but mullerian agenesis as a cause of primary amenorrhea in Turner's syndrome is a very rare entity. Read More

    Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.
    Sex Dev 2017 Apr 4. Epub 2017 Apr 4.
    Paediatric Endocrinology Unit, Vall d'Hebron Research Institute and Hospital, CIBERER, Autonomous University, Barcelona, Spain.
    17α-hydroxylase/17,20-lyase deficiency is a rare form of congenital adrenal hyperplasia caused by mutations in CYP17A1. Two phenotypic female sisters, aged 17 and 15 years and with 46,XY and 46,XX karyotypes, respectively, presented with primary amenorrhea and absent secondary sexual characteristics. The elder sib also presented with high blood pressure. Read More

    Premature Ovarian Insufficiency: Phenotypic Characterization within Different Etiologies.
    J Clin Endocrinol Metab 2017 Mar 28. Epub 2017 Mar 28.
    Center for Reproductive Medicine, Shandong University. National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China. The Key laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, Shandong, China.
    Context: Premature ovarian insufficiency (POI) is highly heterogeneous, both in phenotype and etiology. They are not yet clearly stated and correlated.

    Objective: To characterize clinical presentations of a large, well-phenotyped cohort of women with POI, and correlate phenotypes with etiologies to draw a comprehensive clinical picture of POI. Read More

    Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea.
    Iran J Med Sci 2017 Mar;42(2):210-214
    Department of Pediatrics, Besat Hospital, Hamadan University of Medical Sciences, Hamadan, Iran.
    Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome due to nonrandom X-inactivation. In this article, we describe a healthy 15. Read More

    Vanishing White Matter (VWM) Disease Presenting As Neuro-Ovarian Failure.
    J Coll Physicians Surg Pak 2017 Mar;27(3):S41-S42
    Department of Medicine, Warrington Hospital, UK.
    A 19-year girl was admitted with a one-month history of worsening spastic paraparesis, cerbellar ataxia, visual decline and worsening headaches on a background of walking difficulty, progressive quadriparesis and migraine since the age of 10 years. She had no sensory loss, and cranial nerves examination was notable for optic atrophy with crescent formation only. She had primary amenorrhea and underdeveloped secondary sexual characteristics. Read More

    The Treatment of Dysmenorrhea.
    Pediatr Clin North Am 2017 Apr;64(2):331-342
    Section of Adolescent Medicine, Department of Pediatrics, Yale University School of Medicine, PO Box 208064, 330 Cedar Street, New Haven, CT 06520, USA. Electronic address:
    Menstrual disorders and abnormal uterine bleeding are common concerns of young women. Complaints include menses that are: too painful (dysmenorrhea), absent or occur irregularly (amenorrhea or oligoamenorrhea), or prolonged and heavy (menorrhagia, or excessive uterine bleeding). In providing optimal reproductive care, the medical provider must be able to distinguish between normal developmental patterns or symptoms requiring education and reassurance from pathologic conditions requiring prompt assessment and treatment. Read More

    MRI in the evaluation of obstructive reproductive tract anomalies in paediatric patients.
    Clin Radiol 2017 Mar 7. Epub 2017 Mar 7.
    Department of Radiology, West China Second University Hospital, Sichuan University, Sichuan, China.
    Aim: To outline the anatomical variations of obstructive reproductive tract anomalies (ORTA) using magnetic resonance imaging (MRI) and its role in preoperative evaluation.

    Materials And Methods: MRI and treatment of 21 paediatric patients with ORTA were reviewed and analysed. MRI findings were correlated with ultrasound and surgical findings. Read More

    Complete androgen insensitivity syndrome or testicular feminization: review of literature based on a case report.
    Pan Afr Med J 2016 28;25:199. Epub 2016 Nov 28.
    Department of Urology B, Ibn Sina University Hospital, Rabat, Morocco.
    Testicular feminization, or the androgen insensitivity syndrome, is a rare disease. Because of various abnormalities of the X chromosome, a male, genetically XY, has some physical characteristics of a woman or a full female phenotype. Indeed the androgen insensitivity syndrome occurs because of a resistance to the actions of the androgen hormones, which in turn switches the development towards the aspect of a woman. Read More

    A general description for Chinese medicine in treating premature ovarian failure.
    Chin J Integr Med 2017 Feb 7;23(2):91-97. Epub 2017 Mar 7.
    Laboratory for Reproductive Immunology, Hospital and Institute of Obstetrics and Gynecology, Institutes of Biomedical Sciences (IBS), Fudan University Shanghai Medical College, Shanghai, 200032, China.
    Premature ovarian failure (POF) is a kind of gynecological disease that causes amenorrhea, infertility, menopause and urogenital symptoms. Currently hormone replacement therapy (HRT) is the most popular choice for women with POF to get rid of menopausal syndrome. However, as the popularization of Chinese herbs made Chinese medicine (CM) shine new lights, physicians are able to treat POF with both meno-herbs and integrated therapy. Read More

    Ectopic Pelvic Fibroid in a Woman With Uterine Agenesis and Mayer-Rokitansky-Küster-Hauser Syndrome.
    Ultrasound Q 2017 Mar 3. Epub 2017 Mar 3.
    *Department of Radiology, Faculty of Health Sciences, College of Medicine, University of Manitoba; and †Ultrasound Department, Radiology and Diagnostic Imaging, St Boniface General Hospital, Winnipeg, Manitoba, Canada.
    Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disorder characterized by aplasia or hypoplasia of the uterus and vagina due to arrest in the development of the müllerian ducts. Women with this syndrome have the normal 46 XX karyotype, normal female secondary sex characteristics, and primary amenorrhea. Only a few cases have been described in the literature where a fibroid develops from a rudimentary, nonfunctioning uterus in patients with MRKH syndrome. Read More

    Primary Ovarian Insufficiency: Current Concepts.
    South Med J 2017 Mar;110(3):147-153
    From the Department of Reproductive Biology, Department of Gynecology, Case Western Reserve University, Cleveland, Ohio, and Department of Obstetrics and Gynecology, Wake Forest University, Winston-Salem, North Carolina.
    A potential consequence of chemotherapy is the destruction of oocytes, resulting in primary ovarian insufficiency (POI) in young patients; this often results in secondary amenorrhea and necessitates hormone replacement therapy. Regardless of the etiology of POI, the chance of pregnancy is low in this patient population. Given the extent to which oocyte depletion or dysfunction is variable, there is the possibility of spontaneous ovulation on hormone replacement therapy and subsequent pregnancy, however. Read More

    Case Report: Laparoscopic Uterovaginal Anastomosis for Congenital Isolated Cervical Agenesis.
    J Minim Invasive Gynecol 2017 May - Jun;24(4):677-682. Epub 2017 Feb 24.
    Division of Gynecology and Obstetrics, Maternal and Child Department, Cannizzaro Hospital, Catania, Italy.
    Management of cervical agenesis is a challenge owing to the complexity of the malformation and the difficulty in restoring and preserving fertility. We propose a minimally invasive fertility-sparing surgery for a 17-year-old woman with congenital cervical agenesis and a normal vagina and uterus confirmed by vaginoscopy. The patient was admitted for primary amenorrhea, hematometra, and cyclic pelvic pain. Read More

    Successful Pregnancies and Deliveries in a Patient With Evolving Hypopituitarism due to Pituitary Stalk Transection Syndrome: Role of Growth Hormone Replacement.
    Intern Med 2017 1;56(5):527-530. Epub 2017 Mar 1.
    Department of Endocrinology and Metabolism, Kurobe City Hospital, Japan.
    We herein report a 31-year-old Japanese woman with evolving hypopituitarism due to pituitary stalk transection syndrome. She had a history of short stature treated with growth hormone (GH) in childhood and had hypothyroidism and primary amenorrhea at 20 years old. Levothyroxine replacement and recombinant follicle stimulating hormone-human chorionic gonadotropin (FSH-hCG) therapy for ovulation induction were started. Read More

    Williams Syndrome and 15q Duplication: Coincidence versus Association.
    Mol Syndromol 2017 Jan 15;8(1):50-54. Epub 2016 Nov 15.
    Division of Pediatric Endocrinology, SUNY Downstate Medical Center and Kings County Hospital Center, Brooklyn, N.Y., USA; Department of Pediatrics, SUNY Downstate Medical Center and Kings County Hospital Center, Brooklyn, N.Y., USA.
    Williams syndrome is a multisystem disorder caused by contiguous gene deletion in 7q11.23, commonly associated with distinctive facial features, supravalvular aortic stenosis, short stature, idiopathic hypercalcemia, developmental delay, joint laxity, and a friendly personality. The clinical features of 15q11q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delay, and behavioral problems. Read More

    17α-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS.
    Endocr Pract 2017 May 22;23(5):576-582. Epub 2017 Feb 22.
    Objective: 17α-hydroxylase/17, 20-lyase deficiency (17OHD) is caused by mutations in the cytochrome P450 17A1 (CYP17A1) gene. To better understand 17OHD, a rare disease, we described the clinical features and performed CYP17A1 gene analysis in 8 affected Chinese patients.

    Methods: Patients with complete (7/8) or partial (1/8) 17OHD were derived from 6 families. Read More

    Uterine conserving surgery in a case of cervicovaginal agenesis with unicornuate uterus.
    J Hum Reprod Sci 2016 Oct-Dec;9(4):267-270
    Department of Obstetrics and Gynecology, Institute of Transplantation Sciences, Ahmedabad, Gujarat, India.
    The presence of cervicovaginal agenesis with unicornuate uterus is a very rare mullerian anomaly. Its true incidence is still unknown. The presence of functioning unicornuate uterus poses a great challenge for a gynecologist because a successful repair could restore normal menses and may preserve a patient's fertility. Read More

    A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome.
    J Hum Reprod Sci 2016 Oct-Dec;9(4):263-266
    Department of Radiology, G.S.L. Medical College and General Hospital, Rajahmundry, Andhra Pradesh, India.
    46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46,XX karyotype. The phenotypic manifestations of MRKH syndrome may sometimes overlap with various other syndromes and require accurate delineation. Read More

    Role of progenitor cell producing normal vagina by metaplasia in laparoscopic peritoneal vaginoplasty.
    J Hum Reprod Sci 2016 Oct-Dec;9(4):215-222
    Genetic Research Centre, National Institute for Research in Reproductive Health, Parel, India.
    Context: Host of vaginoplasty techniques have been described. None has been successful in developing normal vagina. Laparoscopic peritoneal vaginoplasty (LPV) is performed in Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) culminating in normal vagina. Read More

    The Clinical Manifestation and Genetic Evaluation in Patients with 45,X/46,XY Mosaicism.
    Sex Dev 2017 Feb 18. Epub 2017 Feb 18.
    Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
    45,X/46,XY mosaicism is a rare chromosomal abnormality and probably underdiagnosed. Although clinical and genetic analyses have been performed in some disorders of sexual development, there have been few studies focusing on the phenotype and genetic details of 45,X/46,XY mosaicism, especially in the Chinese population. The aim of this study was to describe the experience of our service in relation to 16 cases with 45,X/46,XY mosaicism. Read More

    Different dosages of mifepristone versus enantone to treat uterine fibroids: A multicenter randomized controlled trial.
    Medicine (Baltimore) 2017 Feb;96(7):e6124
    aDepartment of Obstetrics and Gynaecology, Peking University First Hospital bDepartment of Obstetrics and Gynaecology,Beijing Chaoyang Hospital cDepartment of Obstetrics and Gynaecology, Peking University Third Hospital dDepartment of Obstetrics and Gynaecology, China-Japan Friendship Hospital, Beijing eDepartment of Obstetrics and Gynaecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai fDepartment of Obstetrics and Gynaecology, The Second Hospital of Hebei Medical University, Hebei gDepartment of Obstetrics and Gynaecology, Qilu Hospital of Shandong University, Shandong hDepartment of Obstetrics and Gynaecology, Shandong Provincial Hospital, Shandong, China.
    Background: To evaluate the efficacy and safety of 10 mg and 25 mg mifepristone per day compared with 3.75 mg enantone in treating uterine fibroids.

    Methods: This is a Multicenter randomized controlled trial. Read More

    [Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Feb;34(1):61-64
    Department of Prenatal Diagnosis Center; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
    Objective: To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome.

    Methods: 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed. Read More

    Rationale and design of ASTEROID 2, a randomized, placebo- and active comparator-controlled study to assess the efficacy and safety of vilaprisan in patients with uterine fibroids.
    Contemp Clin Trials 2017 Apr 6;55:56-62. Epub 2017 Feb 6.
    Department of Women's and Children's Health (KBH), K6, Karolinska Universitetssjukhuset Solna, H2:00, 17176 Stockholm, Sweden. Electronic address:
    Background: Uterine fibroids (UFs) may be treated with progesterone receptor modulators (PRMs), which have been shown to reduce heavy menstrual bleeding and the size of UFs. To date, one PRM (ulipristal acetate) has received regulatory approval for the treatment of UFs; therapy comprises intermittent treatment courses of up to 3months each, followed by a break to allow two menstruations to occur. We report the design of ASTEROID (Assess Safety and efficacy of vilaprisan in patients with uTERine fibrOIDs) 2, a phase 2 study examining the efficacy and safety of a novel PRM, vilaprisan, in women with UFs. Read More

    Diagnosis and Treatment of Pituitary Adenomas: A Review.
    JAMA 2017 Feb;317(5):516-524
    Division of Endocrinology, Metabolism and Molecular Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
    Importance: Pituitary adenomas may hypersecrete hormones or cause mass effects. Therefore, early diagnosis and treatment are important.

    Observations: Prevalence of pituitary adenomas ranges from 1 in 865 adults to 1 in 2688 adults. Read More

    Standardised versus individualised multiherb Chinese herbal medicine for oligomenorrhoea and amenorrhoea in polycystic ovary syndrome: a randomised feasibility and pilot study in the UK.
    BMJ Open 2017 Feb 3;7(2):e011709. Epub 2017 Feb 3.
    University of Southampton Primary Care and Population Sciences Aldermoor Health Centre Aldermoor Close, Southampton, UK.
    Objectives: To explore feasibility of a randomised study using standardised or individualised multiherb Chinese herbal medicine (CHM) for oligomenorrhoea and amenorrhoea in women with polycystic ovary syndrome (PCOS), to pilot study methods and to obtain clinical data to support sample size calculations.

    Design: Prospective, pragmatic, randomised feasibility and pilot study with participant and practitioner blinding.

    Setting: 2 private herbal practices in the UK. Read More

    Cervicovaginal agenesis treated with modified Yang-Monti technique in two steps: Case report and literature review.
    Int J Surg Case Rep 2017 19;31:176-179. Epub 2017 Jan 19.
    Department of General Surgery, Hospital Civil de Guadalajara "Dr. Juan I. Menchaca", Mexico. Electronic address:
    Introduction: Müllerian duct anomalies are rare with less than 200 cases published in the literature. Recently, the implementation of the Yang-Monti principle for the creation of the neovagina has been used in 10 previous published cases. Here, we report the first case of cervicovaginal agenesis treated with the modified Yang-Monti technique in two steps in México. Read More

    Turner syndrome and pituitary adenomas: a case report and review of literature.
    J Pediatr Endocrinol Metab 2017 Feb;30(2):231-235
    Background: Turner syndrome (TS) is the most common sex chromosome abnormality in females, typically associated with primary amenorrhea and premature ovarian failure due to gonadal dysgenesis. The association of TS with hypopituitarism is an uncommon finding. The objective of the study was to describe an adolescent with TS with hypergonadotropic hypogonadism and subsequent hypogonadotropic hypogonadism. Read More

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