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    "Evaluation of four genes associated with primary ovarian insufficiency in a cohort of Mexican women".
    J Assist Reprod Genet 2018 Jun 18. Epub 2018 Jun 18.
    División de Genética, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Laboratorio de Bioquímica 1B, Instituto Mexicano del Seguro Social, Sierra Mojada 800, 44340, Guadalajara, Jalisco, Mexico.
    Purpose: Primary ovarian insufficiency (POI) is a clinical condition observed in women younger than 40 years of age, characterized by amenorrhea, hypoestrogenism, high levels of follicle-stimulating hormone (FSH), and infertility. Mutations in some master regulators of the development, maturation, and maintenance of ovarian follicles such as BMP15, FSHR, FOXL2, and GDF9 have been suggested as etiological factors in the development of POI. The aim of this study, the first in the Mexican population, is to evaluate the presence of mutations or polymorphisms in these four candidate genes. Read More

    Cortical and trabecular bone analysis of professional dancers using 3D-DXA: a case-control study.
    J Sports Sci 2018 Jun 18:1-8. Epub 2018 Jun 18.
    b The Faculty of Education, Health and Wellbeing , University of Wolverhampton , Wolverhampton , United Kingdom.
    Given the lack of relevant data, the aim of this study was to examine femur cortical and trabecular bone in female and male professional ballet dancers. 40 professional ballet dancers and 40 sex- and age-matched non-exercising controls volunteered. Femoral bone density was scanned by dual-energy X-ray absorptiometry (DXA) scan. Read More

    Cyclical Abdominal Pain in an Adolescent Female: A Case Report of Agenesis of the Lower Vagina.
    Pediatr Emerg Care 2018 Jun 14. Epub 2018 Jun 14.
    Department of Pediatrics and Pediatric Emergency Medicine, Johns Hopkins Hospital, Baltimore, MD.
    Congenital agenesis of the lower vagina is a rare disorder characterized by separation between the unaffected proximal vagina and the distal vagina by a band of fibrous tissue. The typical presentation is an early adolescent female with chronic, cyclic abdominal pain and primary amenorrhea. In this case report, we describe an adolescent who presented to the pediatric emergency department on 2 occasions with a chief complaint of lower abdominal pain. Read More

    Combined laparoscopic and vaginal cervicovaginal reconstruction using acellular porcine small intestinal submucosa (SIS) graft in a patient with Mayer-Rokitansky-Küster-Hauser syndrome (U5aC4V4).
    J Minim Invasive Gynecol 2018 Jun 8. Epub 2018 Jun 8.
    Department of Gynecology, Obstetrics and Gynecology Hospital, Fudan University, 128 Shen yang Road, Shanghai 200090, China.
    Objective: To introduce a creation that combines laparoscopic and Wharton-Sheares-George cervicovaginal reconstruction using SIS graft in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome who had a rudimentary cavity (U5aC4V4).

    Design: Video article introducing a new surgical technique.

    Setting: University hospital. Read More

    Complete androgen insensitivity syndrome caused by c.1769-1G > C mutation and activation of a cryptic splice acceptor site in the androgen receptor gene.
    Steroids 2018 May 31. Epub 2018 May 31.
    Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin 130021, PR China. Electronic address:
    Androgen insensitivity syndrome (AIS) is the most common cause of 46,XY disorders of sex development (46,XY DSD). This syndrome is an X-linked recessive genetic disease characterized by resistance to the actions of androgens in an individual with a male karyotype and it is caused by mutations in the androgen receptor (AR) gene. We evaluated two siblings with primary amenorrhea, normal secondary sex characteristics, absence of uterus and ovaries, intra-abdominal testis, and elevated testosterone levels. Read More

    Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations.
    Hormones (Athens) 2018 Mar 16;17(1):127-132. Epub 2018 Apr 16.
    Department of Endocrinology, Royal Darwin Hospital, Darwin, NT, Australia.
    Background: Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by deficiency of various enzymes responsible for adrenal steroidogenesis. 11-Beta-hydroxylase deficiency (11βOHD) and 17-hydroxylase/17,20-lyase deficiency (17OHD) are rare causes of CAH.

    Methods/results: We hereby present a 65-year-old man with 11βOHD and a 33-year-old woman with 17OHD. Read More

    Irreversible primary amenorrhea secondary to uterine damage and premature ovarian failure in Ewing's sarcoma in two patients.
    J Pediatr Adolesc Gynecol 2018 May 29. Epub 2018 May 29.
    The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD.
    Background: The long-term morbidity of childhood cancer survivors is an emerging field as more patients are now expected to live through adulthood.

    Case: We describe two adolescent patients with permanent premature ovarian failure and failure of endometrium to respond to estrogen after they received a combination of chemotherapy and pelvic radiation for metastatic Ewing sarcoma. Both girls were pre-pubertal at diagnosis of Ewing sarcoma. Read More

    46,XY Disorder of Sex Development Caused by 17-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of Gene: Consequences of Late Diagnosis.
    Case Rep Endocrinol 2018 24;2018:2086861. Epub 2018 Apr 24.
    Unit of Endocrinology, Università Cattolica del Sacro Cuore and Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.
    Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease due to specific enzyme deficiencies in the adrenal steroidogenesis pathway.

    Case Description: A 40-year-old Chinese woman was referred to the Endocrine Unit for the work-up of a syndrome characterized by long-lasting and multidrug resistant high blood pressure, severe hypokalemia with metabolic alkalosis, and primary amenorrhea. The patient presented with sexual infantilism, lack of breast development, absence of axillary and pubic hair, tall stature, and slenderness. Read More

    Aromatase inhibitors (letrozole) for subfertile women with polycystic ovary syndrome.
    Cochrane Database Syst Rev 2018 05 24;5:CD010287. Epub 2018 May 24.
    Department of Obstetrics and Gynaecology, University Hospital Münster, Albert-Schweitzer-Campus 1, Münster, Germany, 48149.
    Background: Polycystic ovary syndrome (PCOS) is the most common cause of infrequent periods (oligomenorrhoea) and absence of periods (amenorrhoea). It affects about 4% to 8% of women worldwide and often leads to anovulatory subfertility. Aromatase inhibitors (AIs) are a class of drugs that were introduced for ovulation induction in 2001. Read More

    Diagnosis and management of primary hepatic pregnancy: literature review of 31 cases.
    Arch Gynecol Obstet 2018 May 21. Epub 2018 May 21.
    Department of Hepatopancreatobiliary Surgery, The Second Affiliated Hospital of Harbin Medical University, No. 246 XueFu Avenue, Harbin, 150086, Heilongjiang, China.
    Purpose: To summarize the appropriate diagnostic methods and therapeutic options for primary hepatic pregnancy (PHP).

    Methods: Literature searches were performed in Pubmed, Web of Science, Cochrane Library and Embase databases (1956-2017), using the following search terms: primary hepatic pregnancy, hepatic pregnancy, liver pregnancy, hepatic ectopic pregnancy and intrahepatic pregnancy. Further literature was confirmed through cross-referencing. Read More

    Prevalence of Indicators of Low Energy Availability in Elite Female Sprinters.
    Int J Sport Nutr Exerc Metab 2018 May 14:1-22. Epub 2018 May 14.
    2 Human Performance and Health Research Laboratory, University of Guelph, Guelph, ON, Canada.
    Low energy availability (LEA), and subsequent relative energy deficiency in sport (RED-S), has been observed in endurance, aesthetic, and team sport athletes, with limited data on prevalence in athletes in short-burst activities such as sprinting. We examined prevalence of signs and symptoms of LEA in elite female sprinters at the start of the training season (PRE), and at the end of a 5-month indoor training period (POST). Four of 13 female sprinters (31%) presented at PRE testing with at least one primary (amenorrhea, low BMD, low FSH, LH, or estradiol, RMR ≤ 29kcal/kg FFM, Low Energy Availability in Females Questionnaire (LEAF-Q) score ≥8) and one secondary indicator of LEA (fasting blood glucose < 4mmol/L, free triiodothyronine < 3. Read More

    Low trabecular bone score in adolescent female inpatients with anorexia nervosa.
    Clin Nutr 2018 Apr 26. Epub 2018 Apr 26.
    Pediatric Endocrinology Unit, The Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Tel-Hashomer, Israel; The Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
    Background & Aims: Trabecular bone score (TBS) is an emerging technology that provides information regarding bone microarchitecture. A recent study showed that in healthy girls normal TBS (≥1.35) was achieved within the first year post-menarche. Read More

    Successful Management of Abdominal Pregnancy: Two Case Reports.
    Oman Med J 2018 Mar;33(2):171-175
    Department of Obstetrics and Gynecology, Dubai Hospital, Dubai, UAE.
    Abdominal pregnancy is a rare, life-threatening condition defined as pregnancy in the peritoneal cavity exclusive of tubal, ovarian, or intraligamentary locations. It can be primarily located in the peritoneal cavity or secondary to a ruptured ectopic pregnancy or tubal abortion. We present two cases of abdominal pregnancy, one primary and another secondary, both diagnosed and successfully managed in our institution. Read More

    Extremely Rare Case of Bilateral Pure Primary Non-Gestational Ovarian Choriocarcinoma.
    Pol J Radiol 2017 15;82:547-550. Epub 2017 Sep 15.
    Department of Radiodiagnosis, Byramjee Jeejeebhoy Government Medical College and Sassoon General Hospitals, Poona, Maharashtra, India.
    Background: Germ cell tumors of the ovary constitute less than one percent of ovarian tumors worldwide. Choriocarcinoma arising from the ovary is very rare and only occasionally reported in the literature. Herein, we report a case of bilateral non-gestational pure primary ovarian choriocarcinoma that was confirmed by beta human chorionic gonadotropin (β-HCG) levels and histopathology. Read More

    Efficacy and safety of pulsatile gonadotropin-releasing hormone therapy among patients with idiopathic and functional hypothalamic amenorrhea: a systematic review of the literature and a meta-analysis.
    Fertil Steril 2018 Apr 28;109(4):708-719.e8. Epub 2018 Mar 28.
    Department of Reproductive Endocrinology, Alexandra Hospital, University of Athens, Athens, Greece.
    Objective: To systematically review and appraise the existing evidence in relation to the efficacy and safety of pulsatile gonadotropin-releasing hormone (pGnRH) for the treatment of women with hypothalamic amenorrhea (HA).

    Design: Systematic review and meta-analysis.

    Setting: Not applicable. Read More

    Estrogen deprivation and cardiovascular disease risk in primary ovarian insufficiency.
    Fertil Steril 2018 Apr 28;109(4):594-600.e1. Epub 2018 Mar 28.
    Department of Reproductive Medicine and Gynecology, University Medical Center Utrecht, Utrecht, the Netherlands.
    Objective: To evaluate the association between estrogen (E) exposure and deficiency and cardiovascular disease (CVD) risk among women with primary ovarian insufficiency (POI).

    Design: Cross-sectional study conducted between 1996 and 2016.

    Setting: Tertiary referral centers. Read More

    A rare cause of congenital adrenal hyperplasia: Clinical and genetic findings and follow-up characteristics of six patients with 17- hydroxylase deficiency and two novel mutations.
    J Clin Res Pediatr Endocrinol 2018 Mar 29. Epub 2018 Mar 29.
    Istanbul University, Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit.
    Background: 17-α-hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), characterized by hypertension and varying degrees of ambiguous genitalia and delayed pu-berty. The disease is associated with bi-allelic mutations in the gene located on chromosome 10q24.3. Read More

    About a case of traumatic separation of the cervix from the uterine corpus, diagnosed in a context of infertility.
    J Gynecol Obstet Hum Reprod 2018 Jun 21;47(6):257-260. Epub 2018 Mar 21.
    Service de gynécologie chirurgicale, pôle Femme-Mère-Nouveau-né, hôpital Jeanne-de-Flandre, CHRU Lille, avenue Eugène-Avinée, 59037 Lille cedex, France; Faculté de médecine Henri Warembourg. Université de Lille, France.
    This article reports a case of cervico-isthmic disjunction unnoticed during childhood, diagnosed in a context of primary infertility and endometriosis, and surgically treated. It is an uncommon condition. The diagnosis is most often made as part of an assessment of primary amenorrhea in a young woman with a history of severe pelvic trauma. Read More

    Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
    Hum Mol Genet 2018 Jun;27(11):1913-1926
    Department of Biochemistry, Case Western Reserve University, Cleveland, OH 44106, USA.
    Primary ovarian insufficiency (POI) is characterized by amenorrhea and loss or dysfunction of ovarian follicles prior to the age of 40. POI has been associated with autosomal recessive mutations in genes involving hormonal signaling and folliculogenesis, however, the genetic etiology of POI most often remains unknown. Here we report MRPS22 homozygous missense variants c. Read More

    A CASE REPORT OF PREMENARCHIAL TRANSVERSE VAGINAL SEPTUM AT THE UNIVERSITY COLLEGE HOSPITAL, IBADAN.
    Ann Ib Postgrad Med 2017 Dec;15(2):130-132
    Department of Obstetrics & Gynaecology, University College Hospital, Ibadan.
    Premenarchial Transverse vaginal septum is a benign condition. The septum may be found in the upper, middle or lower vagina. A case report of a premenarchial girl with transverse vaginal septum managed at the university college hospital, Ibadan, in January 2009. Read More

    A novel, homozygous mutation in () in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report.
    Int J Pediatr Endocrinol 2018 2;2018. Epub 2018 Mar 2.
    1Department of Endocrinology and Diabetes, Princess Margaret Hospital, Subiaco, WA Australia.
    Background: () mutations have been described in only a limited number of individuals with 46, XY disorders of sex development (DSD) presenting as either partial or complete gonadal dysgenesis. Gonadal tumours and peripheral neuropathy have been associated with mutations. Herein we report a novel, homozygous mutation of identified through a targeted, massively parallel sequencing (MPS) DSD panel, in a patient presenting with partial gonadal dysgenesis. Read More

    Levonorgestrel emergency contraceptive pills use during breastfeeding; effect on infants' health and development.
    J Matern Fetal Neonatal Med 2018 Feb 20:1-5. Epub 2018 Feb 20.
    a Department of Obstetrics and Gynecology , Faculty of Medicine, Assiut University , Assiut , Egypt.
    Objective: The current study aims to evaluate the effect of the use of single packet of levonorgestrel emergency contraceptive pills (LNG-ECPs) during breastfeeding on the health and development of the nursing infant.

    Materials And Methods: The current study was an ancillary observational cohort study carried out in a university hospital. We counseled all women delivered and planning birth-space and breastfeed for at least 1 year for participation during postpartum hospital stay. Read More

    A Case of Primary Amenorrhea with Swyer Syndrome.
    J Hum Reprod Sci 2017 Oct-Dec;10(4):310-312
    Department of Obstetrics and Gynaecology, G.R. Doshi and K.M. Mehta Institute of Kidney Diseases and Research Centre, Dr. HL Trivedi Institute of Transplantation Sciences, Ahmedabad, Gujarat, India.
    Swyer syndrome with complete gonadal dysgenesis is associated with an absence of testicular differentiation in a phenotypic female with a 46, XY karyotype. A 14-year-old unmarried girl was referred with complaints of primary amenorrhea and nondevelopment of breast. Her built was normal. Read More

    Delayed Presentation of Turner Syndrome: Challenge to Optimal Management.
    J Hum Reprod Sci 2017 Oct-Dec;10(4):297-301
    Department of Endocrinology, Gauhati Medical College, Guwahati, Assam, India.
    Background: Turner syndrome (TS) is a chromosomal disorder associated with dysmorphic features and comorbidities, with recent trends focusing on early diagnosis for adequate management.

    Aim: The aim is to study the age and mode of presentation of TS, associated comorbidities and look for any correlation with the genotype.

    Material And Methods: This was a retrospective analysis of girls with TS attending the endocrinology clinic of a tertiary care center. Read More

    Mayer-Rokitansky-Kuster-Hauser Syndrome: A Unique Case Presentation.
    Mil Med 2018 May;183(5-6):e266-e269
    Department of Obstetrics and Gynecology, San Antonio Military Medical Center 3551 Roger Brooke Drive, Fort Sam Houston, San Antonio, TX 78234.
    Background: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital condition characterized by aplasia of the vagina with or without concurrent uterine and/or cervical aplasia. Type II (MURCS) is a rare form involving MUllerian agenesis, Renal agenesis, and Cervicothoracic Somite anomalies.

    Case: A 17-yr-old virginal female presented for evaluation of primary amenorrhea and pelvic pain. Read More

    [Ovarian Sertoli-Leydig tumor: A tricky tumor].
    Ann Pathol 2018 Apr;38(2):131-136
    Service d'anatomie et cytologie pathologiques, CHU la Timone, 264, rue Saint-Pierre, 13005 Marseille, France.
    We report the case of a 15 years old teenage girl presenting with a primary amenorrhea and hypervirilisation symptoms. The clinical assessement found a 16cm wide heterogenous ovarian mass testosteronemia and alpha-foeto protein levels were increased. On gross exam the tumor was solid and cystic, multilocular containing serous and mucinous liquids. Read More

    Endocrine Abnormalities in Adolescents with Menstrual Disorders.
    J Obstet Gynaecol India 2018 Feb 17;68(1):58-64. Epub 2017 Jul 17.
    4Department of Preventive and Social Medicine, JIPMER, Puducherry, 605006 India.
    Purpose: To look for endocrine abnormalities like thyroid disorders, hyperprolactinemia, hyperandrogenism and PCOS among adolescents with menstrual disorders and to compare the above endocrine status with those without menstrual disorders.

    Methods: This was a case-control study carried out in adolescent girls aged 10-19 years in gynecology outpatient department of a tertiary care hospital. Sample of venous blood (5 ml) was taken for hormonal studies as clinically indicated-thyroid function test, serum prolactin, total testosterone, which were analyzed by chemiluminescence system. Read More

    Intracranial germinoma causing cerebral haemiatrophy and hypopituitarism.
    Pract Neurol 2018 Jan 29. Epub 2018 Jan 29.
    Neurology Department, Hospital das Clínicas, Universidade de São Paulo, São Paulo, Brazil.
    A young woman presented with primary amenorrhoea, progressive haemiparesis, visual disturbance, dementia and focal motor seizures. Investigations showed hypopituitarism, unilateral cerebral atrophy and inflamed cerebrospinal fluid. A trans-sphenoidal biopsy gave a unifying diagnosis of a pituitary germinoma. Read More

    Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency.
    Mol Genet Genomic Med 2018 Mar 24;6(2):276-281. Epub 2018 Jan 24.
    Department of Obstetrics, Gynecology, and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA, USA.
    Background: Hypergonadotropic hypogonadism (HH) is a genetically heterogeneous disorder that usually presents with amenorrhea, atrophic ovaries, and low estrogen. Most cases of HH are idiopathic and nonsyndromic. Nucleoporin 107 (NUP107), a protein involved in transport between cytoplasm and nucleus with putative roles in meiosis/mitosis progression, was recently implicated as a cause of HH. Read More

    Genetic defect of a combined 17 α-hydroxylase/17,20-lyase deficiency patient with adrenal crisis.
    Gynecol Endocrinol 2018 Jun 18;34(6):540-544. Epub 2018 Jan 18.
    a Department of Gynecology , The Obstetrics and Gynecology Hospital , Shanghai , PR China.
    Combined 17 α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive disease that is a type of congenital adrenal hyperplasia, which results in hypertension, hypokalemia, sexual infantilism, primary amenorrhea in females (46,XX), or pseudohermaphroditism in males (46,XY). It is mainly caused by mutation in the CYP17A1 gene, which encodes a key enzyme in the steroidogenic pathway. However, these patients rarely experience adrenal crisis, due to abnormally high corticosterone levels. Read More

    Sequential versus simultaneous use of chemotherapy and gonadotropin-releasing hormone agonist (GnRHa) among estrogen receptor (ER)-positive premenopausal breast cancer patients: effects on ovarian function, disease-free survival, and overall survival.
    Breast Cancer Res Treat 2018 Apr 13;168(3):679-686. Epub 2018 Jan 13.
    Department of Breast Surgery, Fudan University Shanghai Cancer Center, 270 Dongan Road, Xuhui, 200032, Shanghai, People's Republic of China.
    Objective: To investigate ovarian function and therapeutic efficacy among estrogen receptor (ER)-positive, premenopausal breast cancer patients treated with gonadotropin-releasing hormone agonist (GnRHa) and chemotherapy simultaneously or sequentially.

    Method: This study was a phase 3, open-label, parallel, randomized controlled trial (NCT01712893). Two hundred sixteen premenopausal patients (under 45 years) diagnosed with invasive ER-positive breast cancer were enrolled from July 2009 to May 2013 and randomized at a 1:1 ratio to receive (neo)adjuvant chemotherapy combined with sequential or simultaneous GnRHa treatment. Read More

    Bleeding pattern difference between levonorgestrel intrauterine system and copper intrauterine devices inserted immediately post-abortion: a multicenter, prospective, observational cohort study in Chinese women.
    Curr Med Res Opin 2018 May 7;34(5):873-880. Epub 2018 Feb 7.
    i Family Planning Department , Beijing Obstetrics and Gynecology Hospital, Capital Medical University , Beijing , China.
    Background: To describe the bleeding pattern (primary outcome), side effects, treatment satisfaction and 6 month continuity rates associated with the 52 mg levonorgestrel intrauterine system (LNG-IUS) and the copper intrauterine device (Cu-IUD) inserted immediately after abortion.

    Methods: This multicenter, prospective, observational cohort study enrolled healthy women (aged ≥18 years) inserted with LNG-IUS or Cu-IUD immediately after first-trimester surgical abortion and followed up to 6 months. Bleeding pattern was obtained through daily patient bleeding diaries. Read More

    Congenital vaginal atresia: A report of 39 cases in a regional Obstetrics and Gynecology Hospital.
    J Huazhong Univ Sci Technolog Med Sci 2017 Dec 21;37(6):928-932. Epub 2017 Dec 21.
    Obstetrics and Gynecology Hospital, Fudan University, Shanghai, 200011, China.
    To investigate the clinical course and management of congenital vaginal atresia. This retro-spective analysis included patients with congenital vaginal atresia treated from March 2004 to August 2014 at the Obstetrics and Gynecology Hospital of Fudan University. Thirty-nine patients were included in this study. Read More

    ACOG Committee Opinion No. 728: Müllerian Agenesis: Diagnosis, Management, And Treatment.
    • Authors:
    Obstet Gynecol 2018 01;131(1):e35-e42
    Müllerian agenesis, also referred to as müllerian aplasia, Mayer-Rokitansky-Küster-Hauser syndrome, or vaginal agenesis, has an incidence of 1 per 4,500-5,000 females. Müllerian agenesis is caused by embryologic underdevelopment of the müllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. Patients with müllerian agenesis usually are identified when they are evaluated for primary amenorrhea with otherwise typical growth and pubertal development. Read More

    ACOG Committee Opinion No. 728 Summary: Müllerian Agenesis: Diagnosis, Management, And Treatment.
    • Authors:
    Obstet Gynecol 2018 Jan;131(1):196-197
    Müllerian agenesis, also referred to as müllerian aplasia, Mayer-Rokitansky-Küster-Hauser syndrome, or vaginal agenesis, has an incidence of 1 per 4,500-5,000 females. Müllerian agenesis is cau0073ed by embryologic underdevelopment of the müllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. Patients with müllerian agenesis usually are identified when they are evaluated for primary amenorrhea with otherwise typical growth and pubertal development. Read More

    Etiology and management of primary amenorrhoea: A study of 102 cases at tertiary centre.
    Taiwan J Obstet Gynecol 2017 Dec;56(6):761-764
    Department of Obstetrics and Gynecology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India.
    Objective: To determine the prevalence of etiologic causes of primary amenorrhea in Indian population.

    Materials And Methods: A retrospective study was performed using 102 complete medical records of women with primary amenorrhea who attended the Gynaecologic Endocrinology Clinic, Department of Obstetrics and Gynaecology, AIIMS, New Delhi from September 2012 to September 2015. Cases were analysed according to clinical profile, development of secondary sexual characteristics, physical examination, pelvic and rectal examination, X-ray of chest and lumbo-sacral spine, hormone profile, pelvic USG, MRI, and cytogenetic study including karyotype. Read More

    Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.
    J Clin Endocrinol Metab 2018 02;103(2):555-563
    Division of Endocrinology, Metabolism and Diabetes, University of Utah, Salt Lake City, Utah.
    Context: The etiology of primary ovarian insufficiency (POI) remains unknown in most cases.

    Objective: We sought to identify the genes causing POI.

    Design: The study was a familial genetic study. Read More

    An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.
    Genes (Basel) 2017 Dec 11;8(12). Epub 2017 Dec 11.
    Department of Clinical Genetics, The Kennedy Centre/Rigshospitalet/, DK-2600 Glostrup, Denmark.
    Whole exome sequence analysis was performed in a Swedish mother-father-affected proband trio with a phenotype characterized by progressive retinal degeneration with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease. A homozygous variant c.806T > C, p. Read More

    [Professor 's clinical experience in the treatment of premature ovarian failure with acupuncture technique and Chinese herbal medicine].
    Zhongguo Zhen Jiu 2017 Mar;37(3):303-306
    School of Acupuncture Rehabilitation Clinical Medicine, Guangzhou University of CM, Guangzhou 510405, Guangdong Province, China.
    In the treatment of premature ovarian failure (POF), professor focuses on the determination of syndrome to seek for etiology, associating with the differentiation of meridian and collateral and that of organs. Professor believes that POF is mainly manifested as amenorrhea and infertility, localized in the kidney, with the dysfunction of liver, spleen and heart. It is impacted by many pathological factors, such as cold blockage, stagnation, blood stagnation, blood deficiency, deficiency, etc. Read More

    Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms.
    Am J Med Genet A 2018 Feb 3;176(2):404-408. Epub 2017 Dec 3.
    Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
    Perrault syndrome represents a genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and ovarian dysfunction in females. Causative genes include HARS2, HSD17B4, CLPP, C10orf2, and LARS2. Some patients with Perrault syndrome exhibit neurologic features including learning disability, cerebellar ataxia, and peripheral neuropathy and are classified as type 2 and are clinically separate from those without neurological symptoms other than a hearing loss (type 1). Read More

    Adolescent Female With Turner's Syndrome and 46,X,der(Y) del(Y)(p11.2)del(q11.2) Karyotype With Gonadoblastoma and Dysgerminoma.
    Pediatr Dev Pathol 2017 Nov-Dec;20(6):506-510. Epub 2017 Feb 9.
    1 Department of Obstetrics and Gynecology, Monmouth Medical Center, Long Branch, New Jersey.
    Gonadal dysgenesis patients with Y chromosomal material are subject to increased risk for germ cell tumors. We report a case of an adolescent female presenting with Turner-like syndrome with primary amenorrhea and Tanner stage 1 breast development. Karyotype showed one X chromosome and a minute pericentromeric fragment of Y chromosome without any functional Y genes in all the cells, unlike a mosaic pattern, represented as 46,X,der(Y)del(Y)(p11. Read More

    Insulin-sensitising drugs (metformin, rosiglitazone, pioglitazone, D-chiro-inositol) for women with polycystic ovary syndrome, oligo amenorrhoea and subfertility.
    Cochrane Database Syst Rev 2017 11 29;11:CD003053. Epub 2017 Nov 29.
    Department of Obstetrics and Gynaecology, The General Infirmary of Leeds, United Leeds Teaching Hospitals NHS Trust, Belmont Grove, Leeds, UK, LS2 9NS.
    Background: Polycystic ovary syndrome (PCOS) is characterised by infrequent or absent ovulation, and high levels of androgens and insulin (hyperinsulinaemia). Hyperinsulinaemia occurs secondary to insulin resistance and is associated with increased risk of cardiovascular disease and diabetes mellitus. Insulin-sensitising agents such as metformin may be effective in treating PCOS-related anovulation. Read More

    Nutritional supplements and herbal medicines for women with polycystic ovary syndrome; a systematic review and meta-analysis.
    BMC Complement Altern Med 2017 Nov 25;17(1):500. Epub 2017 Nov 25.
    National Institute of Complementary Medicine, Western Sydney University, Locked Bag 1797, Penrith, NSW, 2751, Australia.
    Background: Polycystic ovary syndrome (PCOS) is a common, reproductive endocrinopathy associated with serious short and long term health risks. Many women with PCOS use ingestible complementary medicines. This systematic review examined the effect on menstrual regulation and adverse effects from randomised controlled trials. Read More

    17α-HYDROXYLASE DEFICIENCY IS AN UNDERDIAGNOSED DISEASE: HIGH FREQUENCY OF MISDIAGNOSES IN A LARGE COHORT OF BRAZILIAN PATIENTS.
    Endocr Pract 2018 Feb 16;24(2):170-178. Epub 2017 Nov 16.
    Objective: 17α-Hydroxylase deficiency (P450c17D) is characterized by hypogonadism and mineralocorticoid hypertension. We aimed to estimate the relative incidence and spectrum of preliminary misdiagnoses in Brazilian P450c17D patients.

    Methods: In this cross-sectional study, we reviewed, updated, and analyzed data of 40 P450c17D patients (21 XY, 19 XX). Read More

    Mismatch between fetal sexing and birth phenotype: a case of complete androgen insensitivity syndrome.
    Endocr J 2018 Feb 9;65(2):221-225. Epub 2017 Nov 9.
    Division of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan.
    With advancing maternal age, the number of prenatal genetic tests is increasing in many countries. Prenatal genetic tests, such as amniocentesis, chorionic villus sampling and non-invasive prenatal testing, can disclose fetal chromosomal sex, although these tests were originally designed to prenatally diagnose chromosomal aneuploidies, such as trisomy 21, 18 and 13. Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder caused by an androgen receptor dysfunction leading to hormone resistance. Read More

    Counseling and in-advance provision of levonorgestrel emergency contraceptive pills decrease the rate of unplanned pregnancy during breastfeeding: a randomized controlled trial.
    J Matern Fetal Neonatal Med 2017 Nov 21:1-6. Epub 2017 Nov 21.
    a Department of Obstetrics and Gynecology, Faculty of Medicine , Assiut University , Assiut , Egypt.
    Objective: To evaluate the effect of counseling and in-advance provision of levonorgestrel emergency contraceptive pills (LNG-ECPs) during postpartum counseling on the incidence of occurrence of unplanned pregnancy during breastfeeding.

    Materials And Methods: The current study is an open-label, parallel, randomized controlled trial carried out in a university hospital in Egypt. All women who delivered and planning to birth-space and breastfeed for at least 1 year were approached for participation during a postpartum hospital stay. Read More

    Genetic Etiology of Primary Premature Ovarian Insufficiency
    Acta Clin Croat 2016 12;55(4):629-635
    University Department of Endocrinology, Clinical Center of Serbia, Belgrade, Serbia
    Primary premature ovarian insufficiency (PPOI) is characterized by hypergonadotropic amenorrhea and hypoestrogenism in women under 40 years of age. PPOI incidence is 1:10,000 in women aged 18-25, 1:1000 in women aged 25-30 and 1:100 in women aged 35-40. In 10%-28% of cases, PPOI causes primary and in 4%-18% secondary amenorrhea. Read More

    The utility of anti-Müllerian hormone in the diagnosis and prediction of loss of ovarian function following chemotherapy for early breast cancer.
    Eur J Cancer 2017 12 5;87:58-64. Epub 2017 Nov 5.
    Department of Surgery and Oncology, Imperial College London, UK.
    Aim: Chemotherapy results in permanent loss of ovarian function in some premenopausal women. Accurate identification in women with hormone-sensitive early breast cancer (eBC) would allow optimisation of subsequent endocrine treatment. We sought to assess whether analysis of anti-Müllerian hormone (AMH) using a sensitive automated assay could identify women who would not regain ovarian function after chemotherapy. Read More

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