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    17A-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS.
    Endocr Pract 2017 Feb 22. Epub 2017 Feb 22.
    From: 1Department of Endocrinology, Qilu Hospital, Shandong University, Jinan, Shandong, People's Republic of China.
    Background: 17α-hydroxylase/17, 20-lyase deficiency (17OHD) is caused by mutations in CYP17A1 gene.

    Objective: To better understand 17OHD, a rare disease, we described the clinical features and analyzed the CYP17A1 gene in eight affected Chinese patients.

    Methods: Patients with complete (7/8) or partial (1/8) 17OHD were derived from six 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 Feb 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 Jan 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

    Bmp15 "Knockout-Like" effect in familial premature ovarian insufficiency with persistent ovarian reserve.
    Clin Genet 2017 Jan 17. Epub 2017 Jan 17.
    Faculté de Médecine Paris Sud, Université Paris Sud, Université Paris-Saclay, 63 rue Gabriel Péri, Hôpital Bicêtre, APHP, 94275, Le Kremlin Bicêtre, France.
    Premature ovarian insufficiency (POI) affects 1-2% of women under 40 years. BMP15 variants have been described in POI. We studied a family with two sisters compound heterozygous for deletions in the BMP15 gene on chromosome Xp11. Read More

    Neuroendocrine carcinoma of the ovotestis: A case report and review of literatures.
    Int J Reprod Biomed (Yazd) 2016 Dec;14(12):783-786
    Department of Obstetrics and Gynecology, Firoozgar Hospital, Iran University of Medical Sciences, Tehran, Iran.
    Background: Neuroendocine carcinoma of the gynecologic tract is rare and poses a significant clinical challenge because of tumor heterogeneity and lack of standardized guidelines for treatment. Ovotestis refers to the histology of a gonad that contains both ovarian follicles and testicular tubular elements. Ovotesticular disorder of sexual development occurs in fewer than 10% of all disorders of sexual development. Read More

    eIF2B-related multisystem disorder in two sisters with atypical presentations.
    Eur J Paediatr Neurol 2017 Mar 18;21(2):404-409. Epub 2016 Jul 18.
    Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea. Electronic address:
    Background: Vanishing white matter disease (VWM) is a chronic progressive leukoencephalopathy that is characterized by cerebellar ataxia and spasticity, together with cystic degeneration of the cerebral white matter as evidenced by brain magnetic resonance imaging (MRI). Here, we report two sisters with EIF2B2 variants, who presented with delayed development and failure to thrive before 1 year of age, developed cataracts, and showed diffuse leukoencephalopathy.

    Case Presentation: The index case had a history of hepatomegaly and intermittent vomiting after upper respiratory infection at 11 months of age. Read More

    Complete androgen insensitivity syndrome with concomitant seminoma and Sertoli cell adenoma: an unusual combination.
    BMJ Case Rep 2016 Dec 30;2016. Epub 2016 Dec 30.
    Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India.
    Androgen insensitivity syndrome is a rare disorder of sex development and its clinical manifestations vary from subtle male infertility to an overt complete androgen insensitivity syndrome (CAIS) with a female phenotype. CAIS is often diagnosed at puberty or in adolescence during investigation for primary amenorrhoea. Undiagnosed patients have an increased risk of development of malignancy in the harboured testes. Read More

    Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
    Birth Defects Res C Embryo Today 2016 Dec;108(4):309-320
    Sorahia Domenice, Aline Zamboni Machado, Bruno Ferraz-de-Souza, Antonio Marcondes Lerario, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Luciana R. Montenegro, Amanda Narciso, Elaine Maria Frade Costa, and Berenice Bilharinho Mendonca are from the Laboratório de Hormônios e Genética Molecular (LIM/42), Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brasil.
    Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). Read More

    Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia.
    J Psychosom Res 2017 Jan 6;92:55-62. Epub 2016 Dec 6.
    Division of Human Genetics, Immunology Research Center, Avicenna Research Institute, Mashhad University of Medical Sciences, Mashhad, Iran. Electronic address:
    Objective: To report sexual orientation, relationship status and medical history of Iranian people with Differences of Sex Development (DSD) who were raised female.

    Methods: Our participants consisted of nineteen 46,XY individuals with Complete Androgen Insensitivity Syndrome (CAIS) and eighteen 46,XX individuals with Congenital Adrenal Hyperplasia (CAH) who were raised as females and older than 13years. As well as their relationship status and detailed medical history, an expert psychiatrist assessed their sexual orientation by a semi-structured psychiatric interview with them and, where applicable, their parents. Read More

    A biallelic mutation in the homologous recombination repair gene SPIDR is associated with human gonadal dysgenesis.
    J Clin Endocrinol Metab 2016 Dec 14:jc20162714. Epub 2016 Dec 14.
    2 Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva, Israel.
    Context: Primary ovarian insufficiency (POI) is caused by ovarian follicle depletion or follicle dysfunction, characterized by amenorrhea with elevated gonadotropin levels. The disorder presents as absence of normal progression of puberty.

    Objective: To elucidate the cause of ovarian dysfunction in a family with POI. Read More

    17α‑hydroxylase/17,20‑lyase deficiency in congenital adrenal hyperplasia: A case report.
    Mol Med Rep 2017 Jan 12;15(1):339-344. Epub 2016 Dec 12.
    Department of Endocrinology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China.
    Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene located on chromosome 10q24.3, which leads to a deficiency in 17α‑hydroxylase/17,20‑lyase. The disorder is characterized by low blood levels of estrogens, androgens and cortisol, which leads to a compensatory increase in adrenocorticotropic hormone levels that stimulate the production of mineralocorticoid precursors. Read More

    Evaluation of a new, low-dose levonorgestrel intrauterine contraceptive system over 5 years of use.
    Eur J Obstet Gynecol Reprod Biol 2016 Nov 20;210:22-28. Epub 2016 Nov 20.
    Los Angeles Biomedical Research Institute, Harbor-UCLA Medical Center, CA, USA.
    Objective: To evaluate the efficacy and safety of a new, low-dose levonorgestrel intrauterine contraceptive system (LNG-IUS 12) for up to 5 years of use.

    Study Design: In this Phase III study, 2885 nulliparous and parous women aged 18-35 years were randomized to LNG-IUS 8 or LNG-IUS 12 for 3 years. After 3 years, women using LNG-IUS 12 could continue for up to 2 additional years (5 years total). Read More

    A single-arm phase III study exploring the efficacy and safety of LNG-IUS 8, a low-dose levonorgestrel intrauterine contraceptive system (total content 13.5 mg), in an Asia-Pacific population.
    Contraception 2016 Nov 29. Epub 2016 Nov 29.
    Bayer HealthCare Pharmaceuticals, Seoul, Republic of Korea. Electronic address:
    Objective: The objective was to evaluate the efficacy and safety of a low-dose levonorgestrel intrauterine system with total content 13.5 mg (average approximately 8 μg/24 h over the first year; LNG-IUS 8; Jaydess®) in an Asia-Pacific population.

    Study Design: An open-label, single-arm phase III study conducted at 25 centers in China, Australia and Korea assessed LNG-IUS 8 use over 3 years in nulliparous and parous women (N=1114) aged 18-40 years with regular menstrual cycles (21-35 days). Read More

    Functional characterization of two naturally occurring mutations V(221)G and T(449)N in the follicle stimulating hormone receptor.
    Mol Cell Endocrinol 2017 Jan 23;440:69-79. Epub 2016 Nov 23.
    Division of Structural Biology, National Institute for Research in Reproductive Health (Indian Council of Medical Research), Jehangir Merwanji Street, Parel, Mumbai 400 012, India; ICMR Biomedical Informatics Centre, National Institute for Research in Reproductive Health (Indian Council of Medical Research), Jehangir Merwanji Street, Parel, Mumbai 400 012, India. Electronic address:
    Naturally occurring mutations in follicle stimulating hormone receptor (FSHR) affect the receptor function. Here, we characterized two such previously reported mutations, V(221)G and T(449)N, in the extracellular domain and transmembrane helix 3, of FSHR, respectively. Functional studies with the V(221)G mutant demonstrated an impairment in FSH binding and signaling. Read More

    Pulsatile gonadotropin-releasing hormone therapy in persistent amenorrheic weight-recovered anorexia nervosa patients.
    Fertil Steril 2017 Feb 22;107(2):502-509. Epub 2016 Nov 22.
    Department of Endocrinology, Diabetes, Metabolism and Eating Disorders, University hospital of Saint-Etienne, Saint-Etienne, France; Eating Disorders, Addictions & Extreme Bodyweight Research Group EA 7423, Jean Monnet University, Saint-Etienne, France.
    Objective: To compare hormonal and clinical responses to GnRH pulsatile treatment in weight-recovered anorexia nervosa patients (Rec-AN) with persistent functional hypothalamic amenorrhea (HA) vs. in patients with secondary and primary HA.

    Design: Retrospective, observational, ambulatory study. Read More

    Genetics of primary ovarian insufficiency.
    Clin Genet 2017 Feb 12;91(2):183-198. Epub 2016 Dec 12.
    Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy.
    Primary ovarian insufficiency (POI) is characterized by a loss of ovarian function before the age of 40 and account for one major cause of female infertility. POI relevance is continuously growing because of the increasing number of women desiring conception beyond 30 years of age, when POI prevalence is >1%. POI is highly heterogeneous and can present with ovarian dysgenesis and primary amenorrhea, or with secondary amenorrhea, and it can be associated with other congenital or acquired abnormalities. Read More

    Laparoscopic management of a twisted ovarian leiomyoma in a woman with 10 weeks' gestation: Case report and literature review.
    Medicine (Baltimore) 2016 Nov;95(44):e5319
    Department of Obstetrics and Gynecology, Sanggye Paik Hospital, Inje University, School of Medicine, Seoul, Korea.
    Background: Primary leiomyoma of the ovary is a rare benign ovarian tumor that only seldom causes acute abdomen.

    Case Summary: A 35-year-old gravida 1, para 0 woman presented with a history of acute lower abdominal pain, and 10 weeks of amenorrhea. The patient's physical examination revealed abdominal tenderness, defense, and rebound. Read More

    Primary amenorrhea after bone marrow transplantation and adjuvant chemotherapy misdiagnosed as disorder of sex development: A case report.
    Medicine (Baltimore) 2016 Nov;95(44):e5190
    Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
    Introduction: Disorders of sex development (DSD) is a congenital condition in which the development of chromosomal, gonadal or genital sex is atypical. Majority of patients present clinical characteristics of primary amenorrhea, absent secondary sex characters, and abnormal hormone level. A female appearance patient with primary amenorrhea and 46 XY karyotype seems to be solid evidences to diagnose Y-chromosome-related DSD diseases, while it is not necessarily the accurate diagnosis. Read More

    Seventeen Alpha-Hydroxylase Deficiency Associated with Absent Gonads and Myelolipoma: A Case Report and Review of Literature.
    Iran J Med Sci 2016 Nov;41(6):543-547
    Department of Internal Medicine, Nemazee Teaching Hospital, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
    Congenital adrenal hyperplasia comprises a group of disorders resulting from defects in enzymes required for the synthesis of cortisol. The clinical presentation depends on the specific enzyme defect. We report a rare case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. Read More

    Rare Case of Leiomyoma and Adenomyosis in Mayer-Rokitansky-Kuster-Hauser Syndrome.
    Case Rep Obstet Gynecol 2016 23;2016:3725043. Epub 2016 Oct 23.
    Obstetrics & Gynaecology Department, School of Medical Science, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.
    We report a case of adenomyosis which developed from a hypoplastic uterus and leiomyoma in a patient with MRKH syndrome. A 45-year-old Malay female with primary amenorrhoea and primary infertility presented with abdominal mass and abdominal pain. She is phenotypically female, has well developed secondary sexual characteristics, and has normal female external genitalia with shallow vagina dimple. Read More

    A design thinking approach to primary ovarian insufficiency.
    Panminerva Med 2017 Mar 9;59(1):15-32. Epub 2016 Nov 9.
    Division of Intramural Research, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA -
    Most clinicians are not prepared to provide integrated personal care to address all the clinical needs of women with primary ovarian insufficiency. Design thinking is an engineering methodology used to develop and evaluate novel concepts for systems operation. Here we articulate the need for a seamlessly integrated mobile health system to support genomic research as well as patient care. Read More

    Surgical Therapy of 17α-hydroxylase Deficiency in 30 Patients.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2016 Oct;38(5):559-562
    Department of Obstetrics and Gynecology,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.
    Objective To analyze the clinical features of 17α-hydroxylase deficiency and explore the appropriate timing and methods of surgical treatment. Methods We retrospectively analyzed the clinical data of patients with complete 17α-hydroxylase deficiency,containing Y chromosome material in their karyotype,adimitted to Peking Union Medical College Hospital from January 2004 to December 2014. Results Thirty patients with complete 17α-hydroxylase deficiency were included. Read More

    A case of 46,XX dysgenesis and marked tall stature; the need for caution in interpreting array comparative genomic hybridization (CGH).
    J Pediatr Endocrinol Metab 2016 Dec;29(12):1407-1412
    Background: Gonadal dysgenesis with an apparently normal 46,XX karyotype is a rare cause of hypergonadotrophic hypogonadism. Tall stature is not a widely recognized association.

    Case Report: A 15-year-old girl presented with primary amenorrhoea. Read More

    Imaging Findings in Dysgerminoma in a Case of 46 XY, Complete Gonadal Dysgenesis (Swyer syndrome).
    J Clin Diagn Res 2016 Sep 1;10(9):TD10-TD12. Epub 2016 Sep 1.
    Resident, Department of Radio-diagnosis, Dr. D. Y. Patil Medical College, Hospital and Research Centre , Pimpri, Pune, Maharashtra, India .
    A 46 XY pure gonadal dysgenesis also known as Swyer syndrome. These patients are phenotypic females with normal female external genitalia and absent testicular tissue. The patients with swyer syndrome have streak gonads and increased risk of dysgerminoma and gonadoblastoma. Read More

    Laparoscopic Removal of Streak Gonads in Turner Syndrome.
    J Minim Invasive Gynecol 2016 Nov - Dec;23(7):1025. Epub 2016 May 16.
    Division of Gynecology, Icahn School of Medicine at Mount Sinai, New York, New York.
    Study Objective: To demonstrate the skills necessary for complete resection of bilateral streak gonads in Turner syndrome.

    Design: Video case presentation with narration highlighting the key techniques used. The video was deemed exempt from formal review by our institutional review board. Read More

    Tectal glioma presenting with clinical triad of obesity, amenorrhea and central cord syndrome with radiological pentad of hydrocephalus, empty sella, suprapineal diverticula, Chiari and syrinx.
    Childs Nerv Syst 2016 Oct 18. Epub 2016 Oct 18.
    Department of Radiology, PGIMER, Chandigarh, India.
    Background: Tectal gliomas (TG) are slow-growing tumors and generally present with features of increased intracranial pressure.

    Case Description: We describe an unusual case of a young girl who presented with clinical triad of obesity, primary amenorrhea and central cord syndrome. The radiology unveiled a pentad of hydrocephalus, empty sella, suprapineal recess diverticulum, secondary Chiari malformation and cervical syringomyelia, masking a relatively obscure tectal plate glioma. Read More

    [Intensive training and menstrual disorders in young female: Impact on bone mass].
    Gynecol Obstet Fertil 2016 Nov 15;44(11):659-663. Epub 2016 Oct 15.
    Unité d'endocrinologie et gynécologie pédiatrique, département de pédiatrie, hôpital A.-de-Villeneuve, UMI, CHRU de Montpellier, 34295 Montpellier, France.
    Participation in recreational physical activity is widely acknowledged to provide significant health benefits. Conversely, intense training imposes several constraints, such as intermittent or chronic metabolic and psychogenic training stressors and maintenance of very low body fat to maximize performance. Adolescent and adult athletic women are therefore at risk of overtraining and/or poor dietary intake, which may have several consequences for endocrine function particularly on hypothalamic-pituitary-gonadal axis. Read More

    Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
    Clin Genet 2017 Feb 16;91(2):233-246. Epub 2016 Nov 16.
    Department of Pathophysiology & Transplantation, Università degli Studi di Milano, Milano, Italy.
    Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian agenesis, is the second most common cause of primary amenorrhea. It is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina in otherwise phenotypically normal 46,XX females. MRKH syndrome has an incidence of about 1 in 4,500-5,000 newborn females and it is generally divided into two subtypes: MRKH type 1, in which only the upper vagina, cervix and the uterus are affected, and MRKH type 2, which is associated with additional malformations generally affecting the renal and skeletal systems, and also includes MURCS (MÜllerian Renal Cervical Somite) characterized by cervico-thoracic defects. Read More

    Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum.
    Endocr Rev 2016 Dec 3;37(6):609-635. Epub 2016 Oct 3.
    Murdoch Children's Research Institute (E.J.T., S.R.G., A.H.S.), Royal Children's Hospital, Melbourne, VIC 3052 Australia; Department of Paediatrics (E.J.T., S.R.G., A.H.S.), University of Melbourne, Melbourne, VIC 3010, Australia; Department of Paediatric and Adolescent Gynaecology (S.R.G.), Royal Children's Hospital, Melbourne, VIC 3052, Australia; Assistance Publique Hôpitaux de Paris, (A.B., P.T.), IE3M, Université Pierre et Marie Curie, Paris 6 University, Department of Endocrinology and Reproductive Medicine, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et des Pathologies Gynécologiques Rares, Pitié-Salpêtrière Hospital, Université Pierre et Marie Curie, 75013 Paris, France; Institut National de la Santé et de la Recherche Médicale (A.B., P.T.), 75654 Paris, France.
    Premature ovarian insufficiency (POI) is one form of female infertility, defined by loss of ovarian activity before the age of 40 and characterized by amenorrhea (primary or secondary) with raised gonadotropins and low estradiol. POI affects up to one in 100 females, including one in 1000 before the age of 30. Substantial evidence suggests a genetic basis for POI; however, the majority of cases remain unexplained, indicating that genes likely to be associated with this condition are yet to be discovered. Read More

    Efficacy, Safety, and Acceptability of Low-Dose Mifepristone and Self-Administered Misoprostol for Ultra-Early Medical Abortion: A Randomized Controlled Trial.
    Reprod Sci 2016 Sep 27. Epub 2016 Sep 27.
    Key Laboratory for Reproduction and Genetics of Guangdong Higher-Education Institutes and Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital, Guangzhou Institute of Obstetrics and Gynecology, Guangzhou Medical University, Guangzhou, People's Republic of China.
    The aim of this study was to investigate the efficacy, safety, and acceptability of low-dose mifepristone combined with self-administered misoprostol for ultra-early medical abortion. A total of 744 women with ultra-early pregnancy (amenorrhea ≤35 days) who fulfilled the inclusion criteria were enrolled in the study. Equal numbers of participants were allocated randomly to the hospital administration and self-administration groups. Read More

    Urethral Coitus in a Case of Vaginal Agenesis - Is Only Vaginoplasty Enough to Treat the Urinary Problems?
    J Clin Diagn Res 2016 Aug 1;10(8):QD01-3. Epub 2016 Aug 1.
    Professor, Department of Obstetrics and Gynaecology (Gynecological Oncology), Selçuk University Medicine Faculty , Selçuklu, Konya, Turkey .
    Urethral coitus is an extremely rare condition. Megalourethra and urinary incontinence due to urethral coitus in vaginal agenesis are unusual manifestations because these patients usually present with primary amenorrhea before becoming sexually active and receive treatment. A 24-year-old woman came to our clinic because of primary amenorrhea, sexual dysfunction, dyspareunia, megalourethra and urinary incontinence five months after her marriage due to urethral coitus. Read More

    Massive Ovarian Oedema- A Case Report.
    J Clin Diagn Res 2016 Aug 1;10(8):ED03-4. Epub 2016 Aug 1.
    Postgraduate Student, Department of Pathology, Karpaga Vinayaga Institute of Medical Sciences and Research Centre , Kanchipuram, Tamilnadu, India .
    Massive ovarian oedema is defined by WHO as formation of tumour like enlargement of one or both ovaries by oedema fluid. We report a case of a 18-year-old unmarried girl who presented with three months amenorrhoea and left sided lower abdominal pain with clinical and radiological diagnosis of cystic ovarian neoplasm. Patient underwent lapratomy with left salpingo-oophorectomy. Read More

    Efficacy of Use of Long-Term, Low-Dose Mifepristone for the Treatment of Fibroids.
    J Obstet Gynaecol India 2016 Oct 18;66(Suppl 1):494-8. Epub 2016 Mar 18.
    Department of Obstetrics and Gynecology, Armed Forces Medical College, Pune, 411040 India.
    Background: Fibroid or myoma is the commonest reported tumor of uterus, and is one of the important reasons for hysterectomy in our setting. Different drugs are available for medical management of fibroid uterus including mifepristone, a progesterone antagonist. Varying dosage regimen for mifepristone was studied as medical management of fibroid uterus. Read More

    Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree.
    J Obstet Gynaecol India 2016 Oct 29;66(Suppl 1):358-62. Epub 2015 Jul 29.
    Institute of Reproductive Medicine and Woman Health, The Madras Medical Mission, Chennai, India.
    Background: Androgen insensitivity syndrome or testicular feminization syndrome is a rare X-linked recessive disorder, which encompasses a wide range of phenotypes that are caused by numerous different mutations in the androgen receptor gene. Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. People with this form of the condition have the external sex characteristics of females, but do not have a uterus and therefore do not menstruate and are unable to conceive a child (infertile). Read More

    Efficacy and safety of endometrial ablation for treating abnormal uterine bleeding in pre- and postmenopausal women with liver cirrhosis.
    J Obstet Gynaecol Res 2016 Dec 20;42(12):1753-1760. Epub 2016 Sep 20.
    Center for Major Infectious Diseases, Beijing Youan Hospital, Capital Medical University, Beijing, China.
    Aim: Abnormal uterine bleeding (AUB) occurs in 10-30% of women of reproductive age and up to 61% of cirrhotic women. We evaluated the efficacy and safety of endometrial ablation (NovaSure therapy) for AUB in cirrhotic women.

    Methods: This prospective, two-arm, observational study enrolled patients for NovaSure treatment, and they were followed for 12 months. Read More

    Mayer-Rokitansky-Küster-Hauser Syndrome with Alopecia: A Rare Case Report with Review of Literature.
    Int J Trichology 2016 Jul-Sep;8(3):141-3
    Department of Dermatology Venereology and Leprosy, Jawaharlal Nehru Medical College, Sawangi (Meghe), Wardha, Maharashtra, India.
    A 17-year-old girl presented with alopecia involving lateral margins of the scalp with primary amenorrhea. There was no history of parental consanguinity, and no other siblings were having similar complaints. Her secondary sexual characters were well developed with hypoplastic vagina. Read More

    Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.
    J Clin Endocrinol Metab 2016 Dec 7;101(12):4541-4550. Epub 2016 Sep 7.
    Inserm 1185 (J.B., I.B., S.B., J.F., J.Y., N.B.), Le Kremlin-Bicêtre, Université Paris-Saclay, Faculté de Médecine Paris Sud, 94270 Le Kremlin-Bicêtre, France; Service de Biochimie et Génétique Moléculaire (K.A., C.B., C.D.), Hôpital Cochin, AP-HP, Université Paris-Descartes, 75004 Paris, France; Service d'Endocrinologie-Diabète-Nutrition (A.F., B.D.), CHU de Reims-Hôpital Robert-Debré, 51100 Reims, France; Institut Jacques Monod (A.L.T., R.A.V.), Université Paris Diderot-PARIS 7/CNRS UMR7592, 75013 Paris, France; and Service d'Endocrinologie et des Maladies de la Reproduction (J.Y.), APHP, Hôpital de Bicêtre, 94270 Le Kremlin-Bicêtre, France.
    Context: Idiopathic primary ovarian insufficiency (POI) is a major cause of amenorrhea and infertility. POI affects 1% of women before age 40 years, and several genetic causes have been reported. To date, POI has been considered a monogenic disorder. Read More

    Clinical Features of 32 Patients with XO/XY Gonadal Dysgenesis.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2016 Aug;38(4):411-4
    Department of Obstetrics and Gynecology,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.
    Objective To summarize the clinical features of XO/XY gonadal dysgenesis. Method We retrospectively analyzed the clinical data of patients with XO/XY gonadal dysgenesis admitted to Peking Union Medical College Hospital from January 2008 to May 2015. Results Totally 32 patients with XO/XY gonadal dysgenesis were included. Read More

    Comprehensive systematic review of long-term opioids in women with chronic noncancer pain and associated reproductive dysfunction (hypothalamic-pituitary-gonadal axis disruption).
    Pain 2017 Jan;158(1):8-16
    aResearch Institute for Primary Care & Health Sciences, Keele University, Keele, United Kingdom bDepartment of Oral Medicine, University of Washington, Seattle, WA, USA.
    A comprehensive systematic literature review of reproductive side effects in women aged 18 to 55 years treated with opioids for 1 month or longer for chronic noncancer pain. A search of 7 databases including EMBASE and Medline was undertaken (October 2014 and a limited rerun April 2016). The search contained key words for opioids (generic and specific drug names) and side effects (generic and specific reproductive). Read More

    Sellar Wegener Granulomatosis Masquerading as Cabergoline-Resistant Prolactinoma.
    World Neurosurg 2016 Nov 10;95:622.e1-622.e5. Epub 2016 Aug 10.
    Department of Neurological Surgery, Clinical Neurosciences Center, University of Utah, Salt Lake City, Utah, USA. Electronic address:
    Background: Pituitary manifestation of Wegener granulomatosis (WG) is extremely rare. When there is pituitary involvement, the granulomatous inflammatory lesions involving the pituitary gland may appear several months to years after the primary diagnosis.

    Case Description: We present a case of a 32-year-old woman who presented with galactorrhea, amenorrhea, and elevated serum prolactin levels. Read More

    [CONSERVATIVE TREATMENT OF MAYER-ROKITANSKY-KÜSTER-HAUSER SYNDROME. REVIEW OF LITERATURE AND OUR EXPERIENCE].
    Akush Ginekol (Sofiia) 2016 ;55(1):51-8
    Mayer-Rokitansky-Küster-Hauser syndrome is a part of the group of abnormalities known as "Anomalies of the fusion of the Müllerian ducts". It is characterized by normal development of breasts and hairs, normal appearance of external genitalia, normal feminine genotype (46XX), normal FSH, LH, E₂ and Test. levels, normal ovaries and congenital absence of uterus and the whole or the upper two thirds of the vagina. Read More

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