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

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

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

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

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

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

J Obstet Gynaecol Res 2017 Aug 17. 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

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

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

J Pediatr Adolesc Gynecol 2017 Aug 11. Epub 2017 Aug 11.

Department of Reproductive Endocrinology and Infertility,University of Oklahoma Health Science Center, Oklahoma City OK. Electronic address:

Background: Isolated uterine didelphys requires no treatment in contrast to cervical agenesis, which requires a hysterectomy. Given this, correct diagnosis of Müllerian anomalies is paramount for making recommendations for patient care.

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

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

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

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

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

J Pediatr Adolesc Gynecol 2017 Aug 3. Epub 2017 Aug 3.

Division of Adolescent and Transition Medicine, Cincinnati Children's Hospital Medical Center, OH. 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 abstracted on etiology of POI, history, laboratory evaluation, imaging results, return for clinical care, and treatment plans. Read More

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

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

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

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

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

Diabetologia 2017 Jul 18. 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

Clin Endocrinol (Oxf) 2017 Jul 14. Epub 2017 Jul 14.

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

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

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

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

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

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

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

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

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

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

Gynecol Endocrinol 2017 Jun 13:1-5. 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

J Ethnopharmacol 2017 Jul 6;206:283-289. Epub 2017 Jun 6.

Laboratory of Animal Physiology, Department of Animal Biology and Physiology, Faculty of Science, University of Yaounde I, P.O. Box 812, Yaounde, Cameroon.

Ethnopharmacological Relevance: Milicia excelsa (Welw.) C.C. Read More

Sex Dev 2017 8;11(3):137-142. Epub 2017 Jun 8.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, São Paulo, Brazil.

Hypergonadotropic hypogonadism (HH) is defined by increased gonadotropin levels in men and women. Primary ovarian failure (POF) is a form of female infertility characterized by amenorrhea, hypoestrogenism, and elevated gonadotropin levels in women under the age of 40 years. Although several genes have been associated with POF, its causative genes remain to be identified. Read More

J Psychosom Res 2017 Jul 12;98:87-97. Epub 2017 May 12.

Institute of Child Health, University College London, Gower Street, London WC1E 6BT, UK; Dept. of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, USA.

Objective: Although there are several evidence-based treatments available to increase Bone Mineral Density (BMD) and reduce fracture risk in aging men and women, there are still uncertainties regarding which treatments are efficacious in reducing lifetime fracture risk in women with Anorexia Nervosa (AN).

Methods: Medline, PsychInfo, Embase and the Cochrane Database were searched for English Language Studies. Inclusion criteria were studies of females of any age with AN who received pharmacological treatment with the primary aim to increase BMD or reduce fracture risk. Read More

Eur J Obstet Gynecol Reprod Biol 2017 Jul 10;214:115-130. Epub 2017 May 10.

University Claude Bernard Lyon I, Laboratory Health - Individual - Society, Team P2S (EA 4129), 7-11 rue Guillaume Paradin, 69372 Lyon Cedex 08, France.

Over the past two decades, quality of life has become an essential preoccupation in the care of patients. Many measuring instruments are available to assess physical, psychological and social quality of life. These tools allow healthcare professionals to determine the best quality of their patients. Read More

Climacteric 2017 Oct 19;20(5):436-441. Epub 2017 May 19.

b Department of Endocrinology , Monash Health , Clayton , VIC , Australia.

Objective: Turner syndrome (TS) is associated with hypogonadism, osteoporosis and fractures. We investigated the prevalence and risk factors for low bone density and fractures in a TS cohort.

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

Arch Argent Pediatr 2017 06;115(3):e150-e152

Hospital de Palamós, Gerona, España.

Transverse vaginal septum is a disorder that would arise from a failure in the fusion and/or channeling of the urogenital sinus and the müllerian ducts with low frequency but with a significant impact on the health of patients. The treatment is surgical and it will depend on the location and thickness of the septum. Sometimes, it described a female sex-limited autosomal recessive transmission but few cases of family association have been reported. Read More

J Pediatr Adolesc Gynecol 2017 May 11. Epub 2017 May 11.

1st Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Alexandra Hospital, Athens, Greece. Electronic address:

Study Objective: To study the presentation and causes of premature ovarian insufficiency (POI) in adolescents.

Design: Retrospective notes review.

Setting: Tertiary referral outpatient clinic for pediatric and adolescent gynecology. Read More

Reprod Biol Endocrinol 2017 May 12;15(1):38. Epub 2017 May 12.

The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, 200030, China.

Premature ovarian insufficiency (POI) is a typical disorder of amenorrhea lasting for a minimum of 4 months. The typical characteristics comprised of declined estrogen and raised serum concentrations of follicle-stimulating hormone (FSH) in women <40-year-old, primarily originating from iatrogenic factors, karyotypic abnormalities, and genetic factors. However, the etiology of POI remains unknown in approximately 90% of cases. Read More

J Tehran Heart Cent 2016 Oct;11(4):187-191

Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran.

Mulibrey nanism is a rare autosomal recessive syndrome caused by a mutation in the TRIM37 gene with severe growth retardation and multiple organ involvement. Early diagnosis is important because 50% of the patients develop congestive heart failure owing to constrictive pericarditis, and this condition plays a critical role in the final prognosis. A 37-year-old female patient presented with symptoms of dyspnea on exertion and shortness of breath. Read More

Radiol Case Rep 2017 Jun 6;12(2):300-303. Epub 2017 Mar 6.

PET-CT Center of The First Affiliated Hospital of Xi'an Jiaotong University, 277 Yanta West Road, Xi'an, Shannxi Province 710061, China.

Tubal choriocarcinoma is uncommon, and its magnetic resonance imaging characteristics have not yet been reported. In this report, a 39-year-old woman presented with irregular painless vaginal bleeding and a palpable left lower abdominal lump for 2 months following 6 weeks' amenorrhea and positive urine pregnancy test. Her serum β-human chorionic gonadotropin value was significantly increased. Read More

J Hum Reprod Sci 2017 Jan-Mar;10(1):65-68

Department of Obstetrics & Gynecology, Teerthanker Mahaveer Medical College & Research Centre, Teerthanker Mahaveer University, Moradabad, Uttar Pradesh, India.

Primary amenorrhea is a common diagnostic challenge in the gynecology department, wherein there are numerous causes that need to be approached in a systematic manner. However, when a case with a pelvic lump or a solid pelvic mass presents to a gynecologist or a radiologist, the approach becomes difficult to justify amenorrhea and pelvic mass as a single entity. We present the case of a 36-year-old female with the complaints of primary amenorrhea with a pelvic mass. Read More

J Hum Reprod Sci 2017 Jan-Mar;10(1):58-60

Department of Medicine, Lady Hardinge Medical College and SSK Hospital, New Delhi, Delhi, India.

A 31-year-old woman presented with secondary amenorrhoea and inability to conceive, which was of 3 years duration. She had Raynaud's phenomenon for 16 years, primary hypothyroidism for 5 years, digital ulcers for 4 years and skin tightening for 2 years. She had an expressionless face, with loss of wrinkles and restriction of the mouth opening along with flexion contractures of the hands and the terminal digit resorptions. Read More

Ann Oncol 2017 Aug;28(8):1811-1816

MRC Centre for Reproductive Health, University of Edinburgh, Edinburgh, UK.

Background: Chemotherapy-induced premature ovarian insufficiency (POI) impacts fertility and other aspects of women's health. The OPTION trial tested whether administration of a gonadotropin-releasing hormone agonist during chemotherapy for early breast cancer reduced the risk of POI.

Patients And Methods: This was a prospective, randomized, parallel group study of the gonadotropin-releasing hormone agonist goserelin administered before and during chemotherapy for breast cancer with stage I-IIIB disease. Read More

J Minim Invasive Gynecol 2017 Apr 28. Epub 2017 Apr 28.

Department of Obstetrics and Gynecology, Cleveland Clinic, Cleveland, Ohio.

PLoS One 2017 1;12(5):e0176720. Epub 2017 May 1.

Department of Paediatrics and Adolescent Medicine, Division of Experimental Paediatric Endocrinology and Diabetes, University of Lübeck, Lübeck, Germany.

Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia. Here we present the clinical follow up of four 46,XY DSD patients with three novel heterozygous mutations in the NR5A1 gene leading to a p.T40P missense mutation and a p. Read More

Indian J Endocrinol Metab 2017 Mar-Apr;21(2):360-362

Department of Endocrinology, Seth G. S. Medical College and KEM Hospital, Mumbai, Maharashtra, India.

Endocrinol Diabetes Metab Case Rep 2017 27;2017. Epub 2017 Mar 27.

Department of Endocrinology & Metabolism, Imperial College LondonUK.

Summary: Primary amenorrhoea is defined as the failure to commence menstruation by the age of 15 years, in the presence of normal secondary sexual development. The potential causes of primary amenorrhoea extend from structural to chromosomal abnormalities. Polycystic ovarian syndrome (PCOS) is a common cause of secondary amenorrhoea but an uncommon cause of primary amenorrhoea. Read More

Climacteric 2017 Oct 28;20(5):498-502. Epub 2017 Apr 28.

b Reproductive Biotechnology Research Center , Avicenna Research Institute, ACECR , Tehran , Iran.

Objectives: To report a woman with primary ovarian insufficiency (POI) with reciprocal translocation between chromosomes 5 and 13.

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

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