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    17α-HYDROXYLASE DEFICIENCY IS AN UNDERDIAGNOSED DISEASE. HIGH FREQUENCY OF MISDIAGNOSES IN A LARGE COHORT OF BRAZILIAN PATIENTS.
    Endocr Pract 2017 Nov 16. Epub 2017 Nov 16.
    From: Division of Endocrinology and Metabolism, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo - SP, 04039-034, Brazil.
    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.

    Design: Cross-sectional study. Read More

    Mismatch between fetal sexing and birth phenotype: a case of complete androgen insensitivity syndrome.
    Endocr J 2017 Nov 9. 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):629-35
    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

    THREE SIBLINGS WITH ANDROGEN INSENSITIVITY SYNDROME.
    Ethiop Med J 2016 10;54(4):229-36
    Genetic, gonadal, phenotypic and psychological genderis the basis for gender assignment to an individual. Derangement in genetic makeup, under or over exposure to sex hormones and problems related to sex hormone receptors will lead to abnormal development of the external and internal genitalia. Failure to respond for the endogenous androgen, Androgen Insensitivity Syndrome is one of the common causes of genital ambiguity and intersex. Read More

    Familial Swyer syndrome: a rare genetic entity.
    Gynecol Endocrinol 2017 Oct 26:1-5. Epub 2017 Oct 26.
    b Department of Pathology , Sri Venkateswara Institute of Medical Sciences (SVIMS) , Tirupathi , Andhra Pradesh , India.
    Swyer syndrome is a pure gonadal dysgenesis associated with a 46 XY karyotype and primary amenorrhea in a phenotypic female. Individuals in this syndrome are at an increased risk for development of gonadal malignancies. Swyer syndrome (gonadal dysgenesis) running in families is rare event and few such scenarios were reported in the literature. Read More

    Two consecutive successful live birth in woman with 17α hydroxylase deficiency by frozen-thaw embryo transfer under hormone replacement endometrium preparation.
    Gynecol Endocrinol 2017 Oct 25:1-4. Epub 2017 Oct 25.
    a Department of Obstetrics and Gynecology , Nagasaki University Graduate School of Biomedical Sciences , Nagasaki , Japan.
    17α-Hydroxylase deficiency is rare autosomal recessive disorder that manifested by hypertension, hypokalemia, delayed sexual development, primary amenorrhea and infertility. The information regarding infertility care and conception in women with this disorder are extremely limited. We report a 24-year-old Japanese woman with primary amenorrhea who was diagnosed as partial 17α-hydroxylase deficiency caused by homozygous 3 bp deletion in exon 1 of 17α-hydroxylase gene. Read More

    A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.
    Endocrine 2017 Dec 24;58(3):442-447. Epub 2017 Oct 24.
    Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
    Purpose: Primary ovarian failure (POF) is characterized by amenorrhea, hypoestrogenism, and elevated gonadotropin levels in women leading to infertility under the age of 40 years. POF is a heterogeneous disease with different causes, and several genes have been associated with the POF phenotype. Thus, Whole-exome sequencing (WES) was performed in a consanguineous family with two sisters affected by POF. Read More

    Cardiac tamponade in a patient with autoimmune polyglandular syndrome type 2.
    Endocrinol Diabetes Metab Case Rep 2017 13;2017. Epub 2017 Oct 13.
    1st Department of Cardiology, Hellenic Red Cross Hospital, Athens, Greece.
    We describe a case of a 40-year-old woman who was admitted to the intensive care unit with a rapid onset of dyspnea and orthopnea. She presented progressive weakness, weight loss and secondary amenorrhea during last year, while intermittent fever was present for the last two months. Initial biochemical evaluation showed anemia, hyponatremia and increased C-reactive protein levels. Read More

    Gonadotropin-releasing hormone agonists for ovarian protection during cancer chemotherapy: systematic review and meta-analysis.
    Ultrasound Obstet Gynecol 2017 Oct 21. Epub 2017 Oct 21.
    Division of Human Reproduction, Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
    Objective: To evaluate the effectiveness of GnRH agonist (GnRHa) administration before and/or during cancer chemotherapy for the protection of ovarian reserve in premenopausal women.

    Methods: We conducted a systematic review and meta-analysis of randomized controlled trials (RCT) comparing the use of GnRHa, before and/or during chemotherapy, vs. chemotherapy alone. Read More

    Mifepristone-misoprostol for menstrual regulation in public sector facilities in Bangladesh.
    Int J Gynaecol Obstet 2017 Oct 19. Epub 2017 Oct 19.
    Gynuity Health Projects, New York, NY, USA.
    Objective: To examine the use of mifepristone and misoprostol for menstrual regulation among Bangladeshi women attending public sector facilities.

    Methods: In a prospective study, women (aged ≥18 years) with up to 9 weeks of amenorrhea were enrolled at 24 government health facilities in Bangladesh from November 2012 to June 2015. Paramedics or female welfare visitors provided most menstrual regulation care. Read More

    Cytogenetic analysis of patients with primary amenorrhea in Eastern India.
    J Obstet Gynaecol 2017 Oct 12:1-6. Epub 2017 Oct 12.
    a Department of Genetics , Vivekananda Institute of Medical Sciences , Kolkata , India.
    Amenorrhea is the absence of menstruation in women of reproductive age. Previous reports suggest that chromosomal abnormality is the second most common cause of amenorrhoea. Early referral for cytogenetic evaluation is recommended for the identification of underlying chromosomal aberrations in amenorrhoea patients. Read More

    Clinical characteristics of 138 Chinese female patients with idiopathic hypogonadotropic hypogonadism.
    Endocr Connect 2017 Nov 10;6(8):800-810. Epub 2017 Oct 10.
    Department of Obstetrics and GynecologyPeking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People's Republic of China.
    Objective: To evaluate the clinical features of Chinese women with idiopathic hypogonadotropic hypogonadism (IHH).

    Methods: We retrospectively reviewed the clinical characteristics, laboratory and imaging findings, therapeutic management and fertility outcomes of 138 women with IHH. All patients had been treated and followed up at an academic medical centre during 1990-2016. Read More

    [Analysis a family with partial Xq deletion].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Oct;34(5):688-690
    Center for Prenatal Diagnosis, Women and Children's Health Hospital and Pediatric Hospital of Quanzhou, Quanzhou, Fujian 362000, China.
    Objective: To analyze partial deletion of the long arm of X chromosome in a family and explore the mechanism underlying its phenotypes.

    Methods: G-banding technique was employed to analyze the karyotypes of the subjects, and fluorescence in situ hybridization (FISH) was used to analyze their X chromosomes with Xpter, Xqter and WCPX probes.

    Results: The karyotypes of the proband, her mother and her fetus were all 46,X,del(X)(q24). Read More

    Establishment of a chronic activity-based anorexia rat model.
    J Neurosci Methods 2017 Sep 29;293:191-198. Epub 2017 Sep 29.
    Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital, RWTH University, Aachen, Germany. Electronic address:
    Background: Anorexia nervosa (AN) is often a chronic eating disorder characterised by body image disturbance and low body weight often associated with starvation-induced amenorrhoea and excessive exercise. Activity-based anorexia (ABA) is an animal model representing many somatic aspects of this psychiatric illness. We systematically manipulated the extent and length of starvation and animal age to find the optimal parameters to study chronic starvation. Read More

    Higher prevalence of clinical cardiovascular comorbidities in postmenopausal women with self-reported premenopausal hirsutism and/or oligo-amenorrhea.
    Dermatoendocrinol 2017 22;9(1):e1356517. Epub 2017 Aug 22.
    Department of Clinical Medicine, Federal University of Santa Maria (UFSM), Santa Maria, Brazil.
    Hirsutism is a common condition, being present in about 5-15% of women. It is characterized by the growth of terminal hair in a pattern typical for men, like as hair growth in upper lip, chin, cheek and lower and upper abdomen. Not infrequently, hirsutism is followed by other signs of hyerandrogenism such as alopecia, acne, and seborrhea. Read More

    Two sisters with Mayer-Rokitansky-Küster-Hauser syndrome and serous adenocarcinoma of the ovary.
    Gynecol Oncol Rep 2017 Nov 7;22:13-15. Epub 2017 Sep 7.
    Division of Gynecologic Oncology, Washington University School of Medicine, Center for Advanced Medicine Gynecologic Treatment Center, 4921 Parkview Place, Floor 13, Suite C, St Louis, MO 63110, United States.
    Background: Mayer-Rokitansky-Küster-Hauser syndrome is a rare entity with proposed genetic underpinnings. Ovarian carcinoma has well-described genetic associations and syndromes, although much of the etiology of the disease remains unknown.

    Cases: Two sisters present in the 1970s with primary amenorrhea, 46, XX karyotypes, and absent uteri consistent with MRKH syndrome. Read More

    Menopause: A complex and controversial journey.
    Post Reprod Health 2017 Sep;23(3):128-131
    Department of OBGYN, 1104 University of New Mexico Hospital, Albuquerque, USA.
    Menopause is defined as permanent cessation of menstrual periods, determined retrospectively after a woman has experienced 12 months of amenorrhea without any other obvious cause. Over the years, the discourse surrounding the Climacteric was mainly elicited as a "disease of the castrates", as opposed to the feminist views. There has been a large feminist contribution to both the debate of contraception and menopause in the last few years. Read More

    Mayer-Rokitansky-Küster-Hauser Syndrome With Bilateral Ovarian Sertoli Cell Tumors: Review of the Literature and Report of a Rare Case.
    Female Pelvic Med Reconstr Surg 2017 Sep 15. Epub 2017 Sep 15.
    From the *Obstetrics and Gynecology Department, Newark Beth Israel Medical Center, Newark, NJ.
    Background: Patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome are infertile secondary to hypoplasia or complete agenesis of the uterus, yet they remain at risk of primary neoplasms of the ovaries because embryologically the uterus and ovaries develop via separate mechanisms.

    Case: A 72-year-old nulliparous woman with a history of primary amenorrhea underwent an exploratory laparotomy for a suspected uterine fibroid. In addition to the pelvic mass, the patient was found to have findings consistent with MRKH syndrome. Read More

    Müllerian Agenesis in Cat Eye Syndrome and 22q11 Chromosome Abnormalities: A Case Report and Literature Review.
    J Pediatr Adolesc Gynecol 2017 Sep 14. Epub 2017 Sep 14.
    Department Pathology and Molecular Medicine, McMaster University, Hamilton, ON; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, ON.
    Background: Although Müllerian agenesis is the second most common cause of primary amenorrhea the underlying etiology in the majority of cases is unknown. Müllerian agenesis has been reported as a rare finding associated with chromosomal aberrations of the 22q11 chromosomal region including at least one individual with cat eye syndrome (CES) and 10 individuals with deletions or duplications of the 22q11.2 region. Read More

    Spectrum of MRI Appearance of Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome in Primary Amenorrhea Patients.
    J Clin Diagn Res 2017 Jul 1;11(7):TC30-TC35. Epub 2017 Jul 1.
    Postgraduate Student, Department of Radiodiagnosis, Assam Medical College, Dibrugarh, Assam, India.
    Introduction: Mayer-Rokitansky-Kuster-Hauser (MRKH) synd-rome is a malformation in female genital tract due to interrupted embryonic development of para-mesonephric ducts leading to uterine and proximal vagina aplasia or hypoplasia.

    Aim: To analyse the MRI findings in females suspected of MRKH syndrome in a primary amenorrhea workup.

    Materials And Methods: A cross-sectional study comprising of 11 patients of MRKH syndrome presented in a tertiary care centre from March 2016 to February 2017 evaluated in 1. Read More

    A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease.
    Case Rep Oncol 2017 May-Aug;10(2):769-776. Epub 2017 Aug 16.
    Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
    Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing syndrome, especially the isolated form without Carney complex, associated with germline mutations in PRKAR1A, the protein kinase A regulatory subunit type 1 alpha gene. We report a 31-year-old female who presented with secondary amenorrhea, cushingoid appearance, and hypertension without Carney complex. Biochemical laboratory examinations confirmed the ACTH-independent adrenal Cushing syndrome with negative Liddle test. Read More

    Reduced ovarian reserve in young early breast cancer patients: preliminary data from a prospective cohort trial.
    BMC Cancer 2017 Sep 6;17(1):632. Epub 2017 Sep 6.
    OB/GYN, University of Kiel, UKSH, Arnold-Heller-Straße 3, 24105, Kiel, Germany.
    Background: The numerous side effects of chemotherapy in patients with breast cancer are well known. However, the precise effects of chemotherapy on ovarian function in premenopausal women are poorly investigated. The patients are at risk of developing sexual hormone deficiency and impaired fertility. Read More

    A modified neo-vagina procedure in a low resource urogynecological unit: a case report of a 21 year old with Mayer-Rokitansky-Küster-Hauser (mrkh) Syndrome operated at Mbarara referral hospital, Southwestern Uganda.
    BMC Urol 2017 Aug 29;17(1):69. Epub 2017 Aug 29.
    Department of Obstetrics and Gynecology, University of California, Los Angeles, USA.
    Background: Although vaginal agenesis as may occur in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare condition, it is associated with not only anatomical problems but also serious psychological and social problems like painful sexual intercourse, primary amenorrhea and infertility. Surgery, which is aimed at reconstruction of a vagina of adequate length and width to serve the function, is the main method of treatment. Many methods for vaginal reconstruction have been described but each has its complications and limitations. Read More

    Nomenclature of primary amenorrhea: A proposal document of the Japan Society of Obstetrics and Gynecology committee for the redefinition of primary amenorrhea.
    J Obstet Gynaecol Res 2017 Nov 17;43(11):1738-1742. Epub 2017 Aug 17.
    Department of Obstetrics and Gynecology, Tokyo Metropolitan Bokutoh Hospital, Tokyo, Japan.
    Aim: The aim of this study was to provide medical terms to describe the condition of a girl who should be evaluated for primary amenorrhea in order to facilitate intervention at an appropriate time.

    Methods: We performed a literature and clinical guidelines search for recent practices with regard to menarche and discussed relevant cases that had been experienced by committee members. Additionally, we theoretically reviewed medical terms defined in the Glossary Book of Obstetrics and Gynecology in Japan (Japan Society of Obstetrics and Gynecology, 3rd edition). Read More

    Secondary amenorrhea: Diagnostic approach and treatment considerations.
    Nurse Pract 2017 Sep;42(9):34-41
    Katherine Pereira is an associate professor at Duke University School of Nursing, Durham, N.C., and a family NP at Duke University Medical Center, Division of Endocrinology, Metabolism and Nutrition, Durham, N.C. Ann J. Brown is an associate professor of medicine and vice dean for faculty at Duke University School of Medicine, Durham, N.C.
    Disruptions in the menstrual cycle are a common complaint in primary care and women's health. Irregular or absent menstrual periods should trigger an evaluation to identify the root cause. This article discusses secondary amenorrhea and provides a systematic approach to its diagnostic evaluation, with referral considerations. Read More

    Marfanoid habitus is a nonspecific feature of Perrault syndrome.
    Clin Dysmorphol 2017 Oct;26(4):200-204
    aCenter for Human Genomics, Faculty of Medicine and Pharmacy bDepartment of Endocrinology, Diabetology and Nutrition, Avicenna Hospital, Mohammed V University cDepartment of Medical Genetics, National Institute of Health, Rabat, Morocco dDivision of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester eManchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
    The objective of this study was to report the clinical and biological characteristics of two Perrault syndrome cases in a Moroccan family with homozygous variant c.1565C>A in the LARS2 gene and to establish genotype-phenotype correlation of patients with the same mutation by review of the literature. Whole-exome sequencing was performed. Read More

    Uterine Didelphys with Bilateral Cervical Agenesis in a 15-Year-Old Girl.
    J Pediatr Adolesc Gynecol 2017 Aug 12. Epub 2017 Aug 12.
    Department of Reproductive Endocrinology and Infertility, University of Oklahoma Health Science Center, Oklahoma City, Oklahoma. Electronic address:
    Background: Isolated uterine didelphys requires no treatment in contrast to cervical agenesis, which requires a hysterectomy. Because of this, correct diagnosis of Müllerian anomalies is paramount for making recommendations for patient care.

    Case: A 15-year-old girl presented to clinic with pelvic pain and primary amenorrhea. Read More

    Autopsy case of the C12orf65 mutation in a patient with signs of mitochondrial dysfunction.
    Neurol Genet 2017 Aug 27;3(4):e171. Epub 2017 Jul 27.
    Department of Neurology and Clinical Neuroscience (H.N., M.O., M. Koga, M. Kawai, T.K.), Department of Laboratory Science (H.K.), Department of Pathology (E.I.), Yamaguchi University Graduate School of Medicine, Japan; Department of Neurology and Cerebrovascular Medicine (M.T.), Saitama International Medical Center, Saitama Medical University, Japan; and Department of Neurology and Geriatrics (Y.H., H.T.), Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
    Objective: To describe the autopsy case of a patient with a homozygous 2-base deletion, c171_172delGA (p.N58fs), in the C12orf65 gene.

    Methods: We described the clinical history, neuroimaging data, neuropathology, and genetic analysis of the patients with C12orf65 mutations. Read More

    Kallmann syndrome in pediatric otorhinolaryngology practice - Case report and literature review.
    Int J Pediatr Otorhinolaryngol 2017 Sep 8;100:149-153. Epub 2017 Jul 8.
    Department of Otolaryngology, Centre of Postgraduate Medical Education, 8 Kondratowicza St., 03-242 Warsaw, Poland.
    Background: Kallmann syndrome (KS) is an isolated form of hypogonadotrophic hypogonadism (HH) in combination with a defect in olfactory function. The diagnosis of KS before maturation is often difficult to make due to the broad spectrum of presentation and genetic heterogeneities. ENT examination including smell test is essential for proper diagnosis of olfactory disturbances and non olfactory abnormalities in craniofacial region which may also be existent in KS. Read More

    Successful laparoscopic management of uterine serosal pregnancy.
    Obstet Gynecol Sci 2017 Jul 14;60(4):391-395. Epub 2017 Jul 14.
    Department of Pathology, CHA Bundang Medical Center, CHA University, Seongnam, Korea.
    Uterine serosal pregnancy is an extremely rare form of ectopic pregnancy. This is a report of a 35-year-old primigravida woman who was diagnosed with uterine serosal pregnancy via laparoscopic intervention. A 35-year-old woman (gravida 1, para 0) was referred from a local clinic for a ruptured left tubal pregnancy at amenorrhea 5+0 weeks with elevated serum beta human chorionic gonadotropin (16,618 mIU/mL). Read More

    An unusual cause of isolated secondary ovarian failure due to cerebral toxoplasmosis in an African woman with AIDS.
    BMJ Case Rep 2017 Aug 7;2017. Epub 2017 Aug 7.
    ABM University Health Board, Singleton Hospital, GUM/HIV, Swansea, UK.
    Primary ovarian failure is common. However, isolated secondary ovarian failure due to gonadotrophin deficiency is rare. A few cases of isolated gonadotrophin deficiency, due to congenital cerebral toxoplasmosis, have been described in children. Read More

    Evaluation and Management of Primary Ovarian Insufficiency in Adolescents and Young Adults.
    J Pediatr Adolesc Gynecol 2017 Aug 4. Epub 2017 Aug 4.
    Division of Adolescent and Transition Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. Electronic address:
    Study Objective: To identify clinical features associated with primary ovarian insufficiency (POI) and collect data on the evaluation and treatment received.

    Design: Retrospective chart review. Data were abstracted on etiology of POI, history, laboratory evaluation, imaging results, return for clinical care, and treatment plans. Read More

    Increased detection of co-morbidities with evaluation at a dedicated adult Turner syndrome clinic.
    Climacteric 2017 Oct 28;20(5):442-447. Epub 2017 Jul 28.
    a Menopause Unit, Monash Medical Centre , Monash Health , Clayton , VIC , Australia.
    Objectives: Turner syndrome (TS), resulting from complete/partial X chromosomal monosomy, is associated with multiple co-morbidities and increased mortality. Although multidisciplinary management is recommended, TS women's health care is sub-optimal. This study evaluates a multidisciplinary adult TS service. Read More

    Laparoscopic Uterovaginal Anastomosis for Cervical Agenesis: A Case Report.
    J Minim Invasive Gynecol 2017 Jul 24. Epub 2017 Jul 24.
    Naval Multispeciality Hospital, Jalgaon, India. Electronic address:
    Study Objective: Isolated cervical agenesis occurs in 1 in 80 000 to 100 000 births. According to the American Fertility Society, cervical agenesis should be classified as a type Ib müllerian anomaly. According to ESHRE/ESGE classification, it is classified in class C4 category. Read More

    Progesterone receptor modulators for endometriosis.
    Cochrane Database Syst Rev 2017 Jul 25;7:CD009881. Epub 2017 Jul 25.
    Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
    Background: Endometriosis is defined as the presence of endometrial tissue (glands and stroma) outside the uterine cavity. This condition is oestrogen-dependent and thus is seen primarily during the reproductive years. Owing to their antiproliferative effects in the endometrium, progesterone receptor modulators (PRMs) have been advocated for treatment of endometriosis. Read More

    Diminished ovarian reserve in women with transfusion-dependent beta-thalassemia major: Is iron gonadotoxic?
    Eur J Obstet Gynecol Reprod Biol 2017 Sep 5;216:69-73. Epub 2017 Jul 5.
    Health Science University, Antalya Training and Research Hospital, Department of Hematology, Turkey.
    Objective: Iron accumulation in the endocrine glands has been implicated in the aetiopathogenesis of decreased reproductive capacity in patients with beta-thalassemia major (β-TM). The aim of the current study was to investigate the serum concentration of anti-Müllerian hormone (AMH), a marker of ovarian reserve, in women with transfusion-dependent β-TM.

    Study Design: In this case-control study, we recruited 43 women with transfusion-dependent TM and 44 age-matched healthy controls. Read More

    A gestational choriocarcinoma of the ovary diagnosed by DNA polymorphic analysis: a case report and systematic review of the literature.
    J Ovarian Res 2017 Jul 20;10(1):46. Epub 2017 Jul 20.
    Department of Gynecology, Obstetrics and Gynecology Hospital of Fudan University, 128 Shen Yang Road, Shanghai, 200090, People's Republic of China.
    Background: Choriocarcinoma of the ovary is rare. This tumor can arise from gestational tissue or pure germ cells of the ovary, the former results in gestational choriocarcinoma. The clinical characteristics and histology of both tumor types are identical, differentiation of these tumors is necessary for effective treatment. Read More

    Serum adiponectin predicts fracture risk in individuals with type 2 diabetes: the Fukuoka Diabetes Registry.
    Diabetologia 2017 Oct 18;60(10):1922-1930. Epub 2017 Jul 18.
    Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Maidashi 3-1-1, Higashi-ku, Fukuoka, 812-8582, Japan.
    Aims/hypothesis: Serum adiponectin has been reported to impact upon fracture risk in the general population. Although type 2 diabetes is associated with increased fracture risk, it is unclear whether serum adiponectin predicts fractures in individuals with type 2 diabetes. The aim of the study was to prospectively investigate the relationship between serum adiponectin and fracture risk in individuals with type 2 diabetes. Read More

    A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations.
    Clin Endocrinol (Oxf) 2017 Nov 13;87(5):539-544. Epub 2017 Aug 13.
    Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
    Objective: Disorders of sex development (DSD) are a heterogeneous group of conditions affecting the differentiation and development of the internal and external genitalia. Here, we aimed at identifying the genetic cause of DSD in two 46,XY sisters from a consanguineous family.

    Design: We performed a whole-exome sequencing of two 46,XY female individuals. Read More

    Late Diagnosis of 5-α-Reductase Type 2 Deficiency in an Adolescent Girl with Primary Amenorrhoea.
    Sultan Qaboos Univ Med J 2017 May 20;17(2):e218-e220. Epub 2017 Jun 20.
    Department of Family & Community Medicine, College of Medicine, Najran University, Najran, Saudi Arabia.
    Deficiency of the 5-α-reductase enzyme has been found to affect male sexual development. We report an 18-year-old patient who was referred to an endocrinology clinic in Jizan, Saudi Arabia, in April 2014 with primary amenorrhoea, virilisation and a lack of secondary sex characteristics. As female external genitalia were present at birth, she had been raised as a female. Read More

    Combined Lifestyle and Herbal Medicine in Overweight Women with Polycystic Ovary Syndrome (PCOS): A Randomized Controlled Trial.
    Phytother Res 2017 Sep 7;31(9):1330-1340. Epub 2017 Jul 7.
    National Institute of Complementary Medicine, Western Sydney University, Building 5, Campbelltown Campus, Locked Bag 1797, Penrith, NSW, 2751, Australia.
    Polycystic ovary syndrome (PCOS) is a common, complex reproductive endocrinopathy characterized by menstrual irregularities, hyperandrogenism and polycystic ovaries. Lifestyle modification is a first-line intervention; however, there are barriers to success for this form of self-care, and women often seek adjunct therapies including herbal medicines. This pragmatic, randomized controlled trial, delivered in communities of Australia in overweight women with PCOS, compared the effectiveness and safety of a lifestyle intervention plus herbal medicine against lifestyle alone. Read More

    Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation.
    J Clin Immunol 2017 Jul 5. Epub 2017 Jul 5.
    Division of Pediatric Immunology, Uludag University Faculty of Medicine, Görükle, 16059, Bursa, Turkey.
    Purpose: Homozygous mutations in the HAX1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN). There are limited data on cases of gonadal insufficiency that involve the HAX1 gene mutation. We aimed to evaluate the pubertal development and gonadal functions of our patients with a p. Read More

    Mutational Analysis of Androgen Receptor Gene in Two Families with Androgen Insensitivity.
    Indian J Endocrinol Metab 2017 Jul-Aug;21(4):520-523
    Department of Genetics, Rainbow Children's Hospital, Sandor Proteomics Pvt Ltd, Hyderabad, Telangana, India.
    Background: Androgen insensitivity syndrome (AIS) is a rare X-linked disorder due to mutations in the androgen receptor (AR) gene causing end-organ resistance to the androgenic hormone.

    Subjects And Methods: Genetic studies were carried out in two families by karyotype and targeted exome sequencing of the AR gene.

    Results: Two novel missense mutations were identified, p. Read More

    Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome.
    Anticancer Res 2017 07;37(7):3975-3979
    Department of Pathology, Faculty of Medicine, Tokyo Women's Medical University, Tokyo, Japan.
    Background: Frasier syndrome (FS) is characterized by gonadal dysgenesis and progressive nephropathy caused by mutation in the Wilm's tumor gene (WT1). We report a case of FS in which diagnosis was based on amenorrhea with nephropathy, and laparoscopically-removed streak gonad which revealed gonadoblastoma.

    Case Report: At the age of 3 years, the patient developed nephrotic syndrome. Read More

    Quadro-Cornuate Uterus.
    J Coll Physicians Surg Pak 2016 Nov;26(11):S97-S99
    Department of Gynaecology and Obstetrics, Abbasi Shaheed Hospital and Karachi Medical and Dental College, Karachi.
    Congenital malformations of the female genital tract are a group of miscellaneous deviations from normal anatomy with diverse spectrum. Mullerian anomalies are thought to be present in 0.5% of female population. Read More

    A Rare Uterine Malformation: Asymmetric Septate Uterus.
    J Minim Invasive Gynecol 2017 Jun 22. Epub 2017 Jun 22.
    Department of Obstetrics and Gynecology, Ege University School of Medicine, Izmir, Turkey. Electronic address:
    Study Objective: To demonstrate a step by step surgical hysteroscopy technique in a patient with asymmetric uterine septum and transverse uterine septum that was not previously described in the literature.

    Design: Resection of an asymmetric uterine septum by laparoscopy and ultrasound-guided hysteroscopy (Canadian Task Force classification III). The video was assumed exempt from official review by our institutional review board. Read More

    Successful pregnancy with donor eggs in-vitro fertilization after premature ovarian insufficiency in a tertiary hospital in a low-income setting: a case report.
    Fertil Res Pract 2016 21;2:12. Epub 2016 Nov 21.
    Clinique de l'Aeroport, Douala, Cameroon.
    Background: Premature Ovarian Insufficiency (POI) is classically defined as 4-6 months of cessation of menses (amenorrhea) in women under 40, associated with menopausal level of serum gonadotropins FSH > 40 IU/L and hypo-estrogenism and is also referred to as hypergonadotropic hypogonadism. This disorder can manifest as primary amenorrhea without the onset of menses (menarche), or as secondary amenorrhea after menarche and pubertal development. The diagnosis of this condition in Cameroon is sometimes difficult because of the high cost of hormonal assays and the few laboratories offering these services. Read More

    Premature ovarian insufficiency in general practice: Meeting the needs of women.
    Aust Fam Physician 2017 Jun;46(6):360-366
    Background: Premature ovarian insufficiency (POI), defined as amenorrhoea due to the loss of ovarian function before 40 years of age, can occur spontaneously or be secondary to medical therapies. POI is associated with cardiovascular morbidity, osteoporosis and premature mortality. Women with POI present in primary care with menstrual disturbance, menopausal symptoms, infertility and, often, significant psychosocial issues. Read More

    The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female.
    Gynecol Endocrinol 2017 Dec 13;33(12):918-922. Epub 2017 Jun 13.
    g Department of Life, Health and Environmental Sciences , University of L'Aquila , L'Aquila , Italy.
    17α-Hydroxylase deficiency is an uncommon type of congenital adrenal hyperplasia (CAH) caused by mutations in the CYP17A1 gene encoding both 17α-hydroxylase and 17,20-lyase, essential for sex steroids production. Main clinical features include lack of pubertal development, hypertension, and hypokalemia. We report the first case of a 46,XX female homozygote for the p. Read More

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