3,543 results match your criteria Amenorrhea Primary

Non obvious diagnosis and breast development in pure gonadal dysgenesis.

Ginekol Pol 2022 Jun 22. Epub 2022 Jun 22.

Department of Gynecological Endocrinology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland.

< span lang="EN-US" style="font-size: 12.0pt; line-height: 150%; font-family: 'Times New Roman',serif;" > Pure gonadal dysgenesis is a situation when the karyotype is 46, XY, but for various reasons there is a disorder of differentiation of Wolffian and Mullerian structures and in consequence the phenotype is female. It is known that abdominal gonads and the presence of Y chromosome allow to qualify this condition as a high risk of tumor. Read More

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Anxiety in the Medically Ill: A Systematic Review of the Literature.

Front Psychiatry 2022 3;13:873126. Epub 2022 Jun 3.

Department of Health Sciences, University of Florence, Florence, Italy.

Background: Although anxiety is highly represented in the medically ill and its occurrence has relevant clinical implications, it often remains undetected and not properly treated. This systematic review aimed to report on anxiety, either symptom or disorder, in patients who suffer from a medical illness.

Methods: English-language papers reporting on anxiety in medically ill adults were evaluated. Read More

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Urinary retention unveiling deeply embedded multiple leiomyomas in women with Mayer-Rokitansky-Kuster-Hauser syndrome and its successful laparoscopic management: a case-report and literature review.

J Surg Case Rep 2022 Jun 16;2022(6):rjac291. Epub 2022 Jun 16.

Obstetrics and Gynecology Department, Paras Hospital, Gurugram 122002, India.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the second most common cause of primary amenorrhea with an incidence of 1:4000-5000 women. It is characterized by aplasia or hypoplasia of the uterus and the upper two-thirds of the vagina with normal ovaries and tubes and a normal secondary sexual characteristics. The occurrence of leiomyoma is common but it is rare to have leiomyoma in uterine remnant in MRKH syndrome. Read More

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Complete gonadal dysgenesis analysis in the population of Latvia: malignant outcomes and a review of literature.

Med Pharm Rep 2022 Jan 31;95(1):47-53. Epub 2022 Jan 31.

Department of Pediatrics, Faculty of Medicine, Riga Stradins University, Riga, Latvia.

Background And Aim: Complete gonadal dysgenesis or Swyer syndrome is a rare genetic disorder characterized by 46,XY karyotype and female phenotype with undeveloped streak gonads and high malignancy risk. The condition usually manifests in teenage and young adults with delayed puberty and primary amenorrhea. The purpose of this study was to investigate the incidence and potential malignant outcomes of complete gonadal dysgenesis in Latvia. Read More

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January 2022

Hematocolpos due to imperforate hymen: a case report and literature systematic review.

Int Urogynecol J 2022 Jun 17. Epub 2022 Jun 17.

ASST Monza, San Gerardo University Hospital, via G.B. Pergolesi, 33, Monza, IT, Italy.

Introduction And Hypothesis: Hematocolpos is a rare condition, where menstrual blood fills the vagina, instead of being expelled, due to a series of uterovaginal pathologies, the most frequent of which is the imperforate hymen. To date, few cases of hematocolpos have been reported in the literature.

Methods: We report a case of hematometrocolpos due to imperforate hymen initially misdiagnosed as constipation and subsequently as ovarian mass; moreover, the present study undertakes a systematic review of studies on hematometrocolpos due to imperforate hymen to synthesize available knowledge on epidemiology, diagnosis, and management about this rare condition. Read More

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Women with polycystic ovary syndrome are burdened with multimorbidity and medication use independent of body mass index at late fertile age: A population-based cohort study.

Acta Obstet Gynecol Scand 2022 Jul 8;101(7):728-736. Epub 2022 Jun 8.

PEDEGO Research Unit (Research Unit for Pediatrics, Dermatology, Clinical Genetics, Obstetrics and Gynecology), University of Oulu, Oulu, Finland.

Introduction: This population-based follow-up study investigated the comorbidities, medication use, and healthcare services among women with polycystic ovary syndrome (PCOS) at age 46 years.

Material And Methods: The study population derived from the Northern Finland Birth Cohort 1966 and consisted of women reporting oligo/amenorrhea and hirsutism at age 31 years and/or a PCOS diagnosis by age 46 years (n = 246) and controls without PCOS symptoms or diagnosis (n = 1573), referred to as non-PCOS women. The main outcome measures were self-reported data on symptoms, diagnosed diseases, and medication and healthcare service use at the age of 46 years. Read More

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Risk of preeclampsia among women living in coastal areas impacted by sargassum strandings on the French Caribbean island of Martinique.

Environ Toxicol Pharmacol 2022 Jun 6;94:103894. Epub 2022 Jun 6.

Cardiovascular Research Team EA7525, Université des Antilles University of the French West Indies, Fort de France 97200, France; Department of Cardiology, CHU Martinique, University Hospital of Martinique, Fort-de-France 97261, France. Electronic address:

Objective: To investigate preeclampsia risk of pregnant women living in coastal areas regularly impacted by massive sargassum strandings.

Design: Retrospective cohort study SETTINGS AND POPULATION: Pregnant women (n = 3020), seen at the University Hospital of Martinique, were included between 25/01/2016 and 31/07/2020.

Methods: Patient records were retrospectively reviewed. Read More

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46, XY Disorders of Sexual Development: a case report and theoretical framework.

Acta Biomed 2022 06 6;93(S3):e2022145. Epub 2022 Jun 6.


Background And Aim: Disorders of sexual differentiation (DSD) with karyotype 46,XY include gonadal developmental differences such as complete gonadal dysgenesis, partial gonadal dysgenesis, testicular regression and ovotesticular sexual differentiation disorder, differences in androgen synthesis or action, such as androgen synthesis deficiency, androgen action deficits, LH receptor deficiency, AMH synthesis or action deficits, and other conditions such as severe hypospadias, cloaca estrophy, etc. Methods: A 17 years-old girl came to our attention for hirsutism, clitoral hypertrophy, primary amenorrhea, and bilateral mammary hypoplasia. According to clinical features and anamnesis, the diagnosis of 46, XY DSD was made. Read More

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Primary ewing sarcoma in the uterine cervix with multiple bone metastases.

Arch Gynecol Obstet 2022 Jun 3. Epub 2022 Jun 3.

Department of Obstetrics and Gynecology, Peking University First Hospital, No. 1 Xi'an men Street, Xicheng District, Beijing, 100034, China.

A 45-year-old female (G1, P1) with HPV-52 infection and low-grade cervical cytology presented to our clinic with an asymptomatic cervical mass. She suffered amenorrhea for the past 3 years due to medication for thyroid cancer. Magnetic resonance imaging revealed a mass sized 7. Read More

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Interventions for heavy menstrual bleeding; overview of Cochrane reviews and network meta-analysis.

Cochrane Database Syst Rev 2022 05 31;5:CD013180. Epub 2022 May 31.

Department of Obstetrics and Gynaecology, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.

Background: Heavy menstrual bleeding (HMB) is excessive menstrual blood loss that interferes with women's quality of life, regardless of the absolute amount of bleeding. It is a very common condition in women of reproductive age, affecting 2 to 5 of every 10 women. Diverse treatments, either medical (hormonal or non-hormonal) or surgical, are currently available for HMB, with different effectiveness, acceptability, costs and side effects. Read More

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A rare case report about a congenital adrenal hyperplasia by 21-hydroxylase lock in its pure virilizing form discovered in adolescence.

Ann Med Surg (Lond) 2022 Jun 28;78:103673. Epub 2022 Apr 28.

Department of Endocrinology-Diabetology, Mohammed VI University Hospital Centre, Faculty of Medicine and Pharmacy, Mohammed I University, Oujda, Morocco.

Introduction: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disease. The diagnosis of the classic virilizing form must be made at birth.

Case Presentation: We report the case of a 16-year-old female patient, who consulted for primary amenorrhea and absence of breast development, in whom the clinical examination found a male morphotype, signs of virilization with a peniform hypertrophy of the clitoris. Read More

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Levonorgestrel 52 mg intrauterine system efficacy and safety through 8 years of use.

Am J Obstet Gynecol 2022 May 13. Epub 2022 May 13.

Medicines360, San Francisco, CA.

Background: Extending hormonal intrauterine system duration will allow users to have less need for procedures to provide long-term contraception.

Objective: This study aimed to evaluate the efficacy and safety of the levonorgestrel 52 mg intrauterine system during years 7 and 8 of use.

Study Design: A total of 1751 nulliparous and multiparous participants aged 16 to 45 years enrolled in a phase 3, multicenter trial to evaluate the efficacy and safety of the use of the Liletta levonorgestrel 52 mg intrauterine system for up to 10 years. Read More

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Reversibility of testosterone-induced acyclicity after testosterone cessation in a transgender mouse model.

F S Sci 2021 05 4;2(2):116-123. Epub 2021 Feb 4.

Department of Obstetrics and Gynecology, University of Michigan, Ann Arbor, Michigan, USA; Division of Reproductive Endocrinology and Infertility, University of Michigan, Ann Arbor, Michigan, USA; Department of Urology, University of Michigan, Ann Arbor, Michigan, USA. Electronic address:

Objective: To establish if the cessation of testosterone (T) therapy reverses T-induced acyclicity in a transgender mouse model that allows for well-defined T cessation timing.

Design: Experimental laboratory study using a mouse model.

Setting: University-based basic science research laboratory. Read More

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Etiology and management of amenorrhea in adolescent and young adult women.

Curr Probl Pediatr Adolesc Health Care 2022 05 4;52(5):101184. Epub 2022 May 4.

Division of Adolescent Medicine, Cohen Children's Medical Center, Northwell Health, 410 Lakeville Road, Suite 108, New Hyde Park, NY 11042, United States; Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY, United States.

In this article, we will review the etiology and management of amenorrhea in adolescent and young adult women, beginning with the diagnostic work-up and followed by etiologies organized by system. Most cases of amenorrhea are caused by dysfunction of the hypothalamic-pituitary-ovarian (HPO) axis, which is the major regulator of the female reproductive hormones: estrogen and progesterone.  We begin by reviewing hypothalamic etiologies, including eating disorders and relative energy deficiency in sport. Read More

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New STAG3 gene variant as a cause of premature ovarian insufficiency

Rev Colomb Obstet Ginecol 2022 03 30;73(1):142-148. Epub 2022 Mar 30.

Universidad de Antioquia, Medellín (Colombia).

Objectives: To describe a case of ovarian failure secondary to a homozygous pathogenic variant in the STAG3 gene not previously reported. Materials and Methods: A 16-year-old patient with primary amenorrhea and absence of secondary sexual characteristics, with documented autoimmune hypothyroidism, poor genital and gonadal streak development which prompted the performance of clinical exome sequencing. A homozygous pathogenic variant not previously reported in the STAG3 gene, which has been associated with premature ovarian insufficiency (POI), was identified. Read More

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Primary amenorrhea secondary to imperforate hymen.

Clin Case Rep 2022 Apr 26;10(4):e05786. Epub 2022 Apr 26.

Radiology Department Mohammed Vth Military Hospital Rabat Morocco.

Hymen imperforation is uncommon. Symptoms include primary amenorrhea, cyclical lower abdominal pain, and rarely a pelvic mass syndrome. Delayed discovery may lead to endometriosis and infertility. Read More

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Heterochromatin extension: a possible cytogenetic fate of primary amenorrhea along with normal karyotype.

J Obstet Gynaecol 2022 Apr 26:1-6. Epub 2022 Apr 26.

Department of Anatomy, Diamond Harbour Govt. Medical College and Hospital, Diamond Harbour, India.

Primary amenorrhoea (PA) is considered to be one of the challenging and taxing problems for the gynaecologist. Previous studies suggested that different numerical and structural chromosome abnormalities are associated with this. Heterochromatin polymorphisms are considered to be normal variant but considering the recent research on crucial cellular effects of heterochromatin, we have aimed to find out the prevalence of heteromorphism along with other standard chromosomal abnormalities. Read More

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Evaluation of FMR4, FMR5 and FMR6 Expression Levels as Non-Invasive Biomarkers for the Diagnosis of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI).

J Clin Med 2022 Apr 14;11(8). Epub 2022 Apr 14.

Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.

Female (Fragile X mental retardation 1) premutation carriers are at risk for developing fragile X-associated primary ovarian insufficiency (FXPOI), a condition characterized by amenorrhea before age 40 years. Not all women with a premutation suffer from primary ovarian insufficiency and nowadays there are no molecular or other biomarkers that can help predict the occurrence of FXPOI. Long non-coding RNAs (lncRNAs) comprise a group of regulatory transcripts which have versatile molecular functions, making them important regulators in all aspects of gene expression. Read More

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Identification of Risk Factors in the Development of Heterotopic Ossification after Primary Total Hip Arthroplasty.

J Clin Endocrinol Metab 2022 Apr 22. Epub 2022 Apr 22.

Division of Endocrinology and Metabolism, Department of Medicine, University of California, San Francisco, 513 Parnassus Ave., HSE901, San Francisco, CA.

Purpose: Heterotopic ossification (HO) is a process by which bone forms abnormally in soft tissues. Known risk factors for developing HO include male sex, spinal cord injury, trauma, and surgery. We investigated additional risk factors in the development of HO after hip arthroplasty. Read More

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Modeling primary ovarian insufficiency-associated loci in C. elegans identifies novel pathogenic allele of MSH5.

J Assist Reprod Genet 2022 Jun 18;39(6):1255-1260. Epub 2022 Apr 18.

Magee-Womens Research Institute, Pittsburgh, PA, 15217, USA.

Purpose: In women under the age of 40, primary ovarian insufficiency (POI) is a devastating diagnosis with significant prevalence of 1-4% (Rajkovic and Pangas, Semin Reprod Med. 35(3):231-40, 2017). POI is characterized by amenorrhea with elevated levels of follicle stimulating hormone (FSH) and reduced estrogen levels, mimicking the menopausal state. Read More

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Variability of response to early puberty induction demonstrated by transverse uterine diameter measurement and a novel method of 3D breast imaging.

Clin Endocrinol (Oxf) 2022 Jul 22;97(1):91-99. Epub 2022 Apr 22.

Reproductive Medicine Unit, Institute for Women's Health, University College London Hospitals, London, UK.

Objective: Induction of puberty with exogenous oestrogen results in considerable variability in final uterine and breast volumes. We set out to quantify the variability of these two outcome measures with a view to establishing monitoring methods that could be used to individualise treatment protocols.

Design: A prospective observational study. Read More

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The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous Mutations.

Neurol Genet 2022 Jun 13;8(3):e667. Epub 2022 Apr 13.

Department of Neurology (H.-J.Y.), Department of Radiology (G.P., Y.C.W.), Department of Internal Medicine (I.S.N.-G.), and Department of Obstetrics and Gynecology (J.-W.A.), Ulsan University Hospital, University of Ulsan College of Medicine, South Korea.

Objectives: 4H leukodystrophy is a rare autosomal recessive hypomyelinating disorder characterized by several combinations of motor dysfunction, abnormal dentition, and ophthalmic and endocrine abnormalities. To date, only a single Korean case report of pediatric leukodystrophy caused by the sequence variation has been published, while there are no reports on the , , or variants.

Methods: Genetic tests of Korean sibling pairs with primary amenorrhea due to normosmic isolated hypogonadotropic hypogonadism and cognitive or behavioral symptoms were performed by whole-exome sequencing (WES). Read More

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Anesthetic Management in a Case of MURCS Syndrome.

Anesth Essays Res 2021 Oct-Dec;15(4):454-456. Epub 2022 Mar 1.

Department of General Medicine, S P S Apollo Hospital, Ludhiana, Punjab, India.

MURCS syndrome is a more severe form of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, an acronym meaning aplasia/hypoplasia of Müllerian ducts (MU), congenital renal agenesis/ectopia (R), and cervical somite dysplasia (CS). A common presentation is primary amenorrhea in adolescent females. An anesthetist must consider the benefits and limitations of both regional and general anesthesia for these patients based on site of surgery and severity of malformations. Read More

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Is it reasonable to propose vaginal delivery with twin pregnancies, when the first twin is in breech presentation?

J Gynecol Obstet Hum Reprod 2022 May 9;51(5):102377. Epub 2022 Apr 9.

Univ. Lille, CHU Lille, ULR 2694, METRICS-Evaluation des technologies de santé et des pratiques médicales, F-59000 Lille, France; CHU Lille, Department of Obstetrics, F-59000 Lille, France.

Background: Breech presentation of the first twin occurs in 20% of twin pregnancies. However, the impact of delivery mode on morbimortality in breech fetuses remains controversial in the literature generally, and has been infrequently studied in twin pregnancies specifically. The aim herein was to evaluate neonatal and maternal outcomes according to delivery mode when the first twin was in breech presentation, and to compare these results with those in the current literature. Read More

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Case report: Birth achieved after effective ovarian stimulation combined with dexamethasone in a patient with resistant ovary syndrome.

J Ovarian Res 2022 Apr 7;15(1):42. Epub 2022 Apr 7.

Institute of Reproductive Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.

Background: Resistant ovary syndrome (ROS) is a rare endocrine disorder and there have been few reports of live births by affected patients. As gonadotropin resistance leads immature oocytes, some researchers reported few live births with in vitro maturation (IVM) of oocytes, but IVM is not always successful in ROS patients. Here, we report an original case of ROS, associated with Ig-FSHR in the serum, who achieved a live birth following ovarian stimulation combined with dexamethasone treatment. Read More

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A rare cause of primary amenorrhea: LHCGR gene mutations.

Eur J Obstet Gynecol Reprod Biol 2022 May 19;272:193-197. Epub 2022 Mar 19.

Department of Pediatric Endocrinology, Faculty of Medicine, Dicle University, Diyarbakir, Turkey.

Introduction: The luteinizing hormone/choriogonadotropin receptor (LHCGR) plays a critical role in sexual differentiation and reproductive functions in men and women. Inactivating mutations in this gene lead to Leydig cell hypoplasia (LCH), and cause disorders of sex development (DSD) in patients with 46,XY. In this study, it was aimed to discuss the clinical, laboratory and molecular genetic analysis results of nine patients with 46,XY karyotype who had mutations in the LHCGR gene. Read More

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Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency.

J Assist Reprod Genet 2022 May 29;39(5):1177-1181. Epub 2022 Mar 29.

Research Center for Reproductive Medicine, Unit of Gynecological Endocrinology and Menopause, IRCCS San Matteo Foundation, Pavia, Italy.

Premature ovarian insufficiency (POI) has a strong genetic component, but, in most cases, the etiology remains unidentified. PSMC3IP is an autosomal recessive gene for POI and ovarian dysgenesis, and so far, biallelic mutations in this gene have been described in only four independent families, with all affected members showing primary amenorrhea. Here, we report on the first family with recessive variants in the PSMC3IP gene and POI in a patient with secondary amenorrhea. Read More

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Severe Hyperthyroidism and Complete Hydatidiform Mole in Perimenopausal Woman: Case Report and Literature Review.

Cureus 2022 Feb 15;14(2):e22240. Epub 2022 Feb 15.

Division of Endocrinology, Diabetes and Metabolism, Centro Hospitalar e Universitário do Porto, Porto, PRT.

Gestational trophoblastic disease (GTD) represents a heterogeneous group of disorders within placental trophoblastic cells that are rather rare in perimenopausal ages. One of its complications is the development of secondary clinical hyperthyroidism, which can be potentially complicated if not properly and early recognized. We report the case of a 50-year-old perimenopausal woman, gravida 2 para 2, who presented to the emergency department with severe acute lower abdominal pain and abnormal uterine bleeding for one month. Read More

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February 2022