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Primary Amenorrhea

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1. The role of electrocardiogram in sex verification in a young adult with primary amenorrhea: a case report (PubMed)

The role of electrocardiogram in sex verification in a young adult with primary amenorrhea: a case report The use of electrocardiogram for sex verification in adults is an emerging concept in medicine. It is feasible through the utilization of Ogunlade Sex Determination Electrocardiographic Score. The aim of this study was to use an electrocardiogram to verify the sex of a woman with primary amenorrhea.We report a case of a 36-year-old woman of Yoruba ethnicity who presented with primary (...) for the SRY gene confirming the status as male. This synchronized with the initial electrocardiogram evaluation. The testes were later removed.This report concluded that an electrocardiogram as a cheap, readily available and non-invasive test has a role in sex verification in young adults with primary amenorrhea.

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2018 Journal of medical case reports

2. Functional Hypothalamic Amenorrhea

, and/or skeletal fragility. (2|⊕⊕⊕⚪) 2.8 In cases of primary amenorrhea, we suggest evaluating Müllerian tract anomalies (congenital or acquired). Diagnostic options include physical examination, progestin challenge test, abdominal or transvaginal ultrasound, and/or MRI, depending on the context and patient preferences. (2|⊕⊕⊕⚪) 2.9 In patients with FHA and underlying polycystic ovary syndrome (PCOS), we suggest: a baseline BMD measurement by DXA in those with 6 or more months of amenorrhea and earlier (...) Functional Hypothalamic Amenorrhea '); '); Hypothalamic Amenorrhea Guideline Resources | Endocrine Society Hormone Science to Health / › › › Guidelines and Clinical Practice Section + Hypothalamic Amenorrhea Guideline Resources Full Guideline: JCEM | March 2017 Catherine M. Gordon (chair), Kathryn E. Ackerman, Sarah L. Berga, Jay R. Kaplan, George Mastorakos, Madhusmita Misra, M. Hassan Murad, Nanette F. Santoro, and Michelle P. Warren The 2017 guideline addresses: Diagnosing functional

2017 The Endocrine Society

3. Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea (PubMed)

Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea 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 15.5-year-old girl with primary amenorrhea, gonadal dysgenesis, and tall stature without other manifestations of the Turner syndrome. Relevant clinical, biochemical, endocrinological, and cytogenetical evaluations were performed. Initial investigations revealed hypergonadotropic hypogonadism (FSH=134 mIU/mL [normal=10-15 mIU/mL], LH=47.5 [normal=10-15 mIU/mL], and estradiol=24.3 pmol/L). On ultrasound examination of the pelvis, streak ovaries

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2017 Iranian journal of medical sciences

4. Spectrum of MRI Appearance of Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome in Primary Amenorrhea Patients (PubMed)

Spectrum of MRI Appearance of Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome in Primary Amenorrhea Patients 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.To analyse the MRI findings in females suspected of MRKH syndrome in a primary amenorrhea workup.A cross-sectional study comprising of 11 patients of MRKH syndrome presented

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2017 Journal of clinical and diagnostic research : JCDR

5. Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome (PubMed)

Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome 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. She had severe growth failure and craniofacial dysmorphic feature. Cardiac evaluation showed constrictive pericarditis, moderate pulmonary hypertension, and mild pericardial effusion. The patient underwent pericardiectomy, but her thick and adhesive pericardium forced the surgeon to do partial pericardiotomy. Our report underlines the importance of attention to probable Mulibrey nanism when confronting patients with primary amenorrhea, growth

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2016 The Journal of Tehran University Heart Center

6. Primary amenorrhea after bone marrow transplantation and adjuvant chemotherapy misdiagnosed as disorder of sex development: A case report. (PubMed)

Primary amenorrhea after bone marrow transplantation and adjuvant chemotherapy misdiagnosed as disorder of sex development: A case report. Disorders of sex development (DSD) is a congenital condition in which the development of chromosomal, gonadal or genital sex is atypical. Majority of patients present clinical characteristics of primary amenorrhea, absent secondary sex characters, and abnormal hormone level. A female appearance patient with primary amenorrhea and 46 XY karyotype seems (...) to be solid evidences to diagnose Y-chromosome-related DSD diseases, while it is not necessarily the accurate diagnosis. We report the case of an 18-year-old girl with primary amenorrhea and 46 XY karyotype misdiagnosed as Y-chromosome-related DSD.The patient has normal female reproductive organs and a disrupted pubertal development after the treatment for acute myeloid leukemia (AML). We consider that her gonads were probably functional and later impaired after AML. The clinical manifestations were

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2016 Medicine

7. Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) associated with 46,XY primary amenorrhea. (PubMed)

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) associated with 46,XY primary amenorrhea. To determine the genetic cause of 46,XY primary amenorrhea in three 46,XY girls.Whole exome sequencing.University cytogenetics center.Three patients with unexplained 46,XY primary amenorrhea were included in the study.Potentially pathogenic variants were confirmed by Sanger sequencing, and familial segregation was determined where parents' DNA was available.Exome sequencing (...) was performed in the three patients, and the data were analyzed for potentially pathogenic mutations. The functional consequences of mutations were predicted.Three novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene were identified:c.1573 C→T, p.Gln525Ter, c.1435 C→T p.Arg479Ter, and c.508 C→T, p.Gln170Ter.Inactivating mutations of the LHCGR gene may be a more common cause of 46,XY primary amenorrhea than previously considered.Copyright © 2016 American Society

2016 Fertility and Sterility

8. Primary Amenorrhea

Primary Amenorrhea Primary Amenorrhea Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Primary Amenorrhea Primary Amenorrhea Aka (...) : Primary Amenorrhea , Delayed Menarche From Related Chapters II. Definition No secondary sexual characteristics by 13 years old or No menstrual period by (failure to reach by): Fifteen years old or Five years after initial development or One year beyond III. Causes See Axis 1: or Central (10% of primary causes) Constitutional (6% of primary causes): Gonadotropin deficiency such as (Rare): Associated with Axis 2: Pituitary (2% of primary causes) Pituitary Tumor (8% of primary causes) (hormone producing

2018 FP Notebook

9. Laboratory Endocrine Testing Guidelines: Amenorrhea (without Hirsutism) and Menopause

tests for investigation of amenorrhea (without hirsutism) and suspected menopause TARGET POPULATION Women with primary amenorrhea Girls with the lack of breast development by age 14 years, or by the lack of menses by age 16 in the presence of normal secondary sexual development, or by the lack of menses by three years after the larche Women with secondary amenorrhea (more than six months without menses after prior establishment of menses) EXCLUSIONS Pregnant women RECOMMENDATIONS PRIMARY AMENORRHEA (...) (LH), FSH, estradiol and progesterone for diagnosis or monitoring treatment X DO NOT order follow-up testing for patients receiving hormone replacement therapy as results do not reflect the adequacy of treatment Amenorrhea (without Hirsutism) and Menopause | January 2008 Clinical Practice Guideline Page 2 of 5 Background BACKGROUND PRIMARY AMENORRHEA Primary amenorrhea indicates a significant medical disorder including genetic, anatomic, or endocrine causes 1,2 and has a prevalence of 1 to 2

2014 Toward Optimized Practice

10. FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation (PubMed)

FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation Fragile X-associated primary ovarian insufficiency (FXPOI) occurs in about 20% of women who carry a premutation allele (55-200 CGG repeats). These women develop hypergonadotropic hypogonadism and have secondary amenorrhea before age 40. A non-linear association with repeat size and risk for FXPOI has been seen in multiple studies women with a premutation: those with a mid-range (...) of repeats are at highest risk (∼70-100 CGG repeats). Importantly, not all carriers with 70-100 repeats experience FXPOI. We investigated whether AGG interruptions, adjusted for repeat size, impacted age at secondary amenorrhea. We have reproductive history information and AGG interruption data on 262 premutation women: 164 had an established age at amenorrhea (AAA) (for some, age at onset of FXPOI) or menopause, 16 had a surgery involving the reproductive system such as a hysterectomy, and 82 women were

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2018 Frontiers in genetics

11. Müllerian Agenesis Masquerading as Secondary Amenorrhea (PubMed)

Müllerian Agenesis Masquerading as Secondary Amenorrhea The most common cause of primary amenorrhea is congenital malformation of the Müllerian ducts, including Müllerian agenesis, also known as Mayer-Rokitansky-Küster-Hauser syndrome (MRKH). Most general gynecologists and primary care physicians who see female adolescents will encounter MRKH in their careers. We present the case of an adolescent with MRKH who reported secondary, instead of primary amenorrhea. We discuss the subtleties

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2018 Case reports in pediatrics

12. Efficacy and safety of pulsatile gonadotropin-releasing hormone therapy among patients with idiopathic and functional hypothalamic amenorrhea: a systematic review of the literature and a meta-analysis. (PubMed)

Efficacy and safety of pulsatile gonadotropin-releasing hormone therapy among patients with idiopathic and functional hypothalamic amenorrhea: a systematic review of the literature and a meta-analysis. To systematically review and appraise the existing evidence in relation to the efficacy and safety of pulsatile gonadotropin-releasing hormone (pGnRH) for the treatment of women with hypothalamic amenorrhea (HA).Systematic review and meta-analysis.Not applicable.A total of 35 studies (three (...) is demonstrated. SC pGnRH achieves comparable OvR compared with IV pGnRH. The incidence of OHSS is low and of mild severity. Treatment with pGnRH is associated with low but slightly higher MG rates compared with the general population. IV administered pGnRH is rarely associated with ST.The high OvRs leading to a high rate of singleton pregnancies and the low likelihood of OHSS render the pGnRH treatment modality both effective and safe for the treatment of women with HA of either primary or secondary

2018 Fertility and Sterility

13. Description of Practices Implemented in the Birth of Living Children Before 24 Weeks of Amenorrhea

Implemented in the Birth of Living Children Before 24 Weeks of Amenorrhea Estimated Study Start Date : February 2018 Estimated Primary Completion Date : August 2020 Estimated Study Completion Date : August 2020 Resource links provided by the National Library of Medicine related topics: Groups and Cohorts Go to Intervention Details: Behavioral: Asking caregivers in their practice A questionary is given to caregivers Outcome Measures Go to Primary Outcome Measures : Existence of cardiac activity [ Time (...) Description of Practices Implemented in the Birth of Living Children Before 24 Weeks of Amenorrhea Description of Practices Implemented in the Birth of Living Children Before 24 Weeks of Amenorrhea - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove

2018 Clinical Trials

14. Higher prevalence of clinical cardiovascular comorbidities in postmenopausal women with self-reported premenopausal hirsutism and/or oligo-amenorrhea (PubMed)

. The current study evaluated the association between a self-reported history of hirsutism and oligo-amenorrhea during reproductive age and the presence of several comorbidities in women after menopause. A total of 1057 women were investigated in a cross-sectional study, and information on the age at menarche, menstrual history, complaints about excessive hair growth, and disease development was obtained. Participants from the study were postmenopausal women aged >55 y who attended ac primary care service (...) Higher prevalence of clinical cardiovascular comorbidities in postmenopausal women with self-reported premenopausal hirsutism and/or oligo-amenorrhea 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

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2017 Dermato-endocrinology

15. Chromosomal abnormalities and hormonal disorders of primary amenorrhea patients in Egypt (PubMed)

Chromosomal abnormalities and hormonal disorders of primary amenorrhea patients in Egypt Primary amenorrhea is defined as the absence of menstruation and secondary sexual characteristics in phenotypic women aged 14 years or older. Hormonal disorders are main causes of primary amenorrhea. Common hormonal cause of primary amenorrhea includes pituitary dysfunction and absent ovarian function. The aim of this study was to estimate the incidence and types of chromosomal abnormalities in patients (...) with primary amenorrhea in Egypt.Chromosomal analysis and hormonal assay were carried out on 223 patients with primary amenorrhea that were referred from different parts of Egypt to Cytogenetic laboratory of Genetic Unit, Children Hospital Mansoura University, from July 2008 to December 2010. FISH technique was carried out in some of cases to more evaluation.The frequency of chromosomal abnormalities was 46 (20.63%) in primary amenorrhea patients. The chromosomal abnormalities can be classified into four

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2012 Indian journal of human genetics

16. Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations. (PubMed)

Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations. To map the X-chromosome and autosome breakpoints in women with balanced X-autosome translocations and primary amenorrhea, searching candidate genomic loci for female infertility.Retrospective and case-control study.University-based research laboratory.Three women with balanced X-autosome translocation and primary amenorrhea.Conventional cytogenetic methods, genomic array, array painting, fluorescence in situ (...) of an autosome segment in Xq21 region.The etiology of primary amenorrhea in balanced X-autosome translocation patients may underlie more complex mechanisms than interruption of specific X-linked candidate genes, such as position effect. The fine mapping of the rearrangement breakpoints may be a tool for identifying genetic pathogenic mechanisms for primary amenorrhea.Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

2015 Fertility and Sterility

17. Primary amenorrhea in adolescent girls: normal coitus or not? Always take a look in the physician's office. (PubMed)

Primary amenorrhea in adolescent girls: normal coitus or not? Always take a look in the physician's office. Primary care physicians are frequently faced with the challenge of evaluating primary amenorrhea in adolescent girls. Approximately 15% of these women have abnormal genital examination, with Müllerian agenesis being the second most frequent cause. We report two cases of adolescents with Müllerian agenesis that presented to a tertiary adolescent medicine center with primary amenorrhea (...) and the very rare sexual phenomenon of urethral coitus. The aim of this report is to emphasize the importance of performing a genital examination in girls who present with amenorrhea in the primary care setting, even if 'normal' vaginal sexual activity is assumed.A 19-year-old Caucasian and a 16-year-old Filipino girl presented to a tertiary adolescent medicine center with primary amenorrhea and a history of 'normal' vaginal coitus. Investigation revealed Müllerian agenesis in association with urethral

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2014 BMC Women's Health

18. Primary amenorrhea: diagnosis and management. (PubMed)

Primary amenorrhea: diagnosis and management. Puberty is a defining time of many adolescents' lives. It is a series of events that includes thelarche, pubarche, and menarche. Primary amenorrhea is the absence of menarche. There are numerous etiologies including outflow tract obstructions, gonadal dysgenesis, and anomalies of the hypothalamic axis. This review's aims are to define primary amenorrhea and describe the various causes, their workups, associated comorbidities, and treatment options (...) . At the end, a generalist should be able to perform an assessment of an adolescent who presents with primary amenorrhea and, if warranted, begin initial treatment.

2014 Obstetrical & Gynecological Survey

19. Evidence for prolonged and unique amenorrhea-related symptoms in women with premature ovarian failure/primary ovarian insufficiency. (PubMed)

Evidence for prolonged and unique amenorrhea-related symptoms in women with premature ovarian failure/primary ovarian insufficiency. This study aims to describe premature ovarian failure (POF)/primary ovarian insufficiency (POI) symptoms experienced by women from a non-clinic-based sample of members of a POF/POI-specific support group.Two hundred ninety women were surveyed for 6 weeks. The survey included demographics, health history, and a validated menopause-related quality-of-life

2014 Menopause

20. Total Antioxidant Capacity Before and After HRT in Hypotalamic Amenorrhea

Enrollment : 20 participants Intervention Model: Single Group Assignment Masking: None (Open Label) Primary Purpose: Treatment Official Title: Effects of 6 Months of HRT on Total Antioxidant Capacity in Patients Affected by Hypotalamic Amenorrhea Study Start Date : March 2015 Actual Primary Completion Date : October 2016 Estimated Study Completion Date : December 2017 Resource links provided by the National Library of Medicine related topics: available for: Arms and Interventions Go to Arm Intervention (...) Total Antioxidant Capacity Before and After HRT in Hypotalamic Amenorrhea Total Antioxidant Capacity Before and After HRT in Hypotalamic Amenorrhea - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Total

2016 Clinical Trials

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