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    Diminished ovarian reserve in women with transfusion-dependent beta-thalassemia major: Is iron gonadotoxic?
    Eur J Obstet Gynecol Reprod Biol 2017 Jul 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 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

    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 Jul 14. Epub 2017 Jul 14.
    Université Paris Diderot, Sorbonne Paris Cité, 75205, Paris Cedex 13, 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 Jul 7. 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 Jul;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 21. Epub 2017 Jun 21.
    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 a 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 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

    Emmenagogue properties of Milicia excelsa (Welw.) C.C. Berg (Moraceae) based, at least in part, on its ability to correlate the activity of the hypothalamic-pituitary axis to that of the ovaries.
    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

    A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family.
    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

    Pharmacological treatment options for low Bone Mineral Density and secondary osteoporosis in Anorexia Nervosa: A systematic review of the literature.
    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

    Evaluation of the quality of life of pregnant women from 2005 to 2015.
    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

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

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

    [Transverse vaginal septum diagnosed in sisters. Cases report].
    Arch Argent Pediatr 2017 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

    Premature Ovarian Insufficiency: An Adolescent Series.
    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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

    Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.
    Sex Dev 2017 4;11(2):70-77. Epub 2017 Apr 4.
    Paediatric Endocrinology Unit, Vall d'Hebron Research Institute and Hospital, CIBERER, Autonomous University, Barcelona, Spain.
    17α-hydroxylase/17,20-lyase deficiency is a rare form of congenital adrenal hyperplasia caused by mutations in CYP17A1. Two phenotypic female sisters, aged 17 and 15 years and with 46,XY and 46,XX karyotypes, respectively, presented with primary amenorrhea and absent secondary sexual characteristics. The elder sib also presented with high blood pressure. Read More

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

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

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

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

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

    MRI in the evaluation of obstructive reproductive tract anomalies in paediatric patients.
    Clin Radiol 2017 Jul 7;72(7):612.e7-612.e15. Epub 2017 Mar 7.
    Department of Radiology, West China Second University Hospital, Sichuan University, Sichuan, China.
    Aim: To outline the anatomical variations of obstructive reproductive tract anomalies (ORTA) using magnetic resonance imaging (MRI) and its role in preoperative evaluation.

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

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

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

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

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