3,050 results match your criteria Amenorrhea Primary


Successful Treatment Outcome in a Woman with Congenital Adrenal Hyperplasia.

J Obstet Gynaecol India 2019 Apr 30;69(2):188-191. Epub 2018 Nov 30.

Department of OBG, Cosmopolitan Hospital, Thiruvananthapuram, India.

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http://dx.doi.org/10.1007/s13224-018-1193-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6430272PMC
April 2019
1 Read

Urogynecological and Sexual Functions after Vecchietti Reconstructive Surgery.

Biomed Res Int 2019 25;2019:2360185. Epub 2019 Feb 25.

2nd Department of Gynecology, Medical University in Lublin, ul. Jaczewskiego 8, 20-954 Lublin, Poland.

Hypothesis/aims Of Study: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the second most common cause of primary amenorrhea. The ESHRE/ESGE categorizes this disorder within the class 5 uterine malformation of the female genital tract anomalies. It is characterized by congenital absence of the uterus, cervix, and upper part of the vagina in otherwise phenotypically normal 46XX females. Read More

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http://dx.doi.org/10.1155/2019/2360185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413384PMC
February 2019
1 Read

Mayer-Rokitansky-Küster-Hauser syndrome with a uterine cervix and normal vagina associated with gonadal dysgenesis in a 46,XX female.

J Obstet Gynaecol Res 2019 Mar 26. Epub 2019 Mar 26.

Department of Obstetrics and Gynecology, Federation of National Public Service Personnel Mutual Aid Associations, Tachikawa Hospital, Tokyo, Japan.

Coexistence of Mayer-Rokitansky-Küster-Hauser syndrome and gonadal dysgenesis is extremely rare, and a case of Mayer-Rokitansky-Küster-Hauser syndrome with a uterine cervix and normal vagina has not been reported. Here, we report such a case associated with gonadal dysgenesis. A 17-year-old female presented with primary amenorrhea and undeveloped secondary sexual characteristics. Read More

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http://dx.doi.org/10.1111/jog.13956DOI Listing
March 2019
1 Read

[Female reproductive system dysplasia: a clinical study of 924 cases].

Zhonghua Fu Chan Ke Za Zhi 2019 Mar;54(3):166-172

Department of Obstetrics and Gynecology, the Second Hospital of Hebei Medical University, Shijiazhuang 050000, China.

To explore the relationship between different types of female reproductive system dysplasia and age of visit, clinical manifestations, common types of combined malformations and endometriosis. The patient's medical records in the Second Hospital of Hebei Medical University from December 2002 to June 2016 were collected and retrospectively analyzed. Among 924 cases of genital tract dysplasia, uterine dysplasia (65. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0529-567x.2019.03.005DOI Listing
March 2019
2 Reads

Clinical manifestations, evaluation and management of hyperprolactinemia in adolescent and young girls: a brief review.

Acta Biomed 2019 Jan 23;90(1):149-157. Epub 2019 Jan 23.

Obstetrics and Gynecology Department of Venizeleio General Hospital, Heraklion, Crete, Greece.

Hyperprolactinemia (HPrl) is considered as a rare endocrinopathy in childhood. In children and adolescent girls, there are three major categories of HPrl causes; physiological, pathological and iatrogenic. Through hypogonadotropic hypogonadism, prolactin hypersecretion and production leads to the typical functional syndrome which is observed in female children and adolescents; delayed puberty, primary or secondary amenorrhea and/or galactorrhea. Read More

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http://www.mattioli1885journals.com/index.php/actabiomedica/
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http://dx.doi.org/10.23750/abm.v90i1.8142DOI Listing
January 2019
9 Reads

Primary amenorrhoea secondary to two different syndromes: a case study.

BMJ Case Rep 2019 Mar 15;12(3). Epub 2019 Mar 15.

National Institute of Diabetes and Endocrinology, Department of Medicine, Dow University of Health Sciences, Karachi, Pakistan.

Turner syndrome is a relatively common chromosomal abnormality presenting as primary amenorrhoea in gynaecological and endocrine clinics, caused by complete or partial X monosomy in some or all cells. Mayer-Rokitansky-Kuster-Hauser syndrome is another common cause of primary amenorrhoea characterised by Mullerian agenesis of varying degrees. We report a case of an 18-year-old girl, who presented with primary amenorrhoea, absence of secondary sexual characteristics and short stature. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22814
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http://dx.doi.org/10.1136/bcr-2018-228148DOI Listing
March 2019
5 Reads

Causes Of Primary Amenorrhea At Tertiary Level Hospital.

J Ayub Med Coll Abbottabad 2019 Jan-Mar;31(1):60-63

Department Obstetrics & Gynaecology, Lady Reading Hospital, Peshawar, Pakistan.

Background: The objective of this study was to collect data of patients coming to us with primary amenorrhea. Finding the different causes of this problem and managing them accordingly with the help multidisciplinary team.. Read More

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March 2019
5 Reads

Safety and efficacy of the selective progesterone receptor modulator asoprisnil for heavy menstrual bleeding with uterine fibroids: pooled analysis of two 12-month, placebo-controlled, randomized trials.

Hum Reprod 2019 Apr;34(4):623-634

AbbVie Inc., North Chicago, IL, USA.

Study Question: Can asoprisnil, a selective progesterone receptor modulator, provide clinically meaningful improvements in heavy menstrual bleeding (HMB) associated with uterine fibroids with an acceptable safety profile?

Summary Answer: Uninterrupted treatment with asoprisnil for 12 months effectively controlled HMB and reduced fibroid and uterine volume with few adverse events.

What Is Known Already: In a 3-month study, asoprisnil (5, 10 and 25 mg) suppressed uterine bleeding, reduced fibroid and uterine volume, and improved hematological parameters in a dose-dependent manner.

Study Design, Size, Duration: In two Phase 3, double-blind, randomized, placebo-controlled, multicentre studies, women received oral asoprisnil 10 mg, asoprisnil 25 mg or placebo (2:2:1) once daily for up to 12 months. Read More

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http://dx.doi.org/10.1093/humrep/dez007DOI Listing
April 2019
2 Reads

MRI evaluation of pelvis in Mayer-Rokitansky-Kuster-Hauser syndrome: interobserver agreement for surgically relevant structures.

Br J Radiol 2019 May 15;92(1097):20190045. Epub 2019 Mar 15.

1 Department of Radiology and Imaging, Vardhman Mahavir Medical College and Safdarjung Hospital , New Delhi , India.

Objectives: Diagnostic role of MRI in Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is well documented. Recent studies have shown the relevance of MRI in detailing the pelvic anatomy, particularly small Mullerian remnants. The results are, however, not consistent and reproducibility of MRI features has not been confirmed. Read More

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http://dx.doi.org/10.1259/bjr.20190045DOI Listing
May 2019
1 Read

[Hypophysitis and retroperitoneal fibrosis associated with autoimmune polyglandular syndrome and IgG4-related disease. Report of one case].

Rev Med Chil 2018 Dec;146(12):1486-1492

Servicio de Medicina, Hospital Naval A. Nef., Viña del Mar, Chile.

We report a 23 year old woman presenting with a nephrotic syndrome due to minimal change disease, central diabetes insipidus, primary hypothyroidism, vitiligo and universal alopecia. Eleven years later, she presented secondary amenorrhea due to hypogonadotropic hypogonadism, with mild hyperprolactinemia and central adrenal insufficiency. A magnetic resonance imaging of the sella turcica showed a pituitary mass with suprasellar extension that was resected using a transsphenoidal approach. Read More

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http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S
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http://dx.doi.org/10.4067/s0034-98872018001201486DOI Listing
December 2018
9 Reads
0.373 Impact Factor

Shox and Awe: A Case of Variant Turner Syndrome with an Unusual Phenotype.

J Assoc Genet Technol 2019 ;45(1):18-20

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, VT.

Objectives: Turner syndrome was first described to encompass a shared set of physical features displayed by a subset of female patients including short stature and lack of sexual development. Half of cases are due to complete loss of an X chromosome, while the remainder are due to other alterations of the X chromosome that disrupt genes necessary for normal physical and sexual development. The SHOX gene, located at Xp22. Read More

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January 2019
4 Reads

A case of Mayer-Rokitansky-Küster-Hauser syndrome in a low-resource tertiary hospital in Douala, Cameroon.

SAGE Open Med Case Rep 2019 13;7:2050313X19830817. Epub 2019 Feb 13.

Department of Obstetrics and Gynecology, Faculty of Medicine and Biomedical Sciences, The University of Yaounde 1, Yaoundé, Cameroon.

The Mayer-Rokitansky-Küster-Hauser syndrome is the congenital absence or underdevelopment of the uterus and vagina even though the external genitalia, ovaries and ovarian function are normal. This condition is uncommon in Cameroon. A 23-year-old woman of the Fulbé tribe, a predominantly Islamic tribe of the northern part of Cameroon, complained of the absence of menstruation after age of puberty and lower abdominal pain occurring almost at the same period every month. Read More

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http://dx.doi.org/10.1177/2050313X19830817DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378465PMC
February 2019

Severe metabolic syndrome and primary amenorrhea as main pathophysiological features in a subtype of turner syndrome (46, X, del (X) Q 21).

Wiad Lek 2019;72(1):124-128

Department of Internal Medicine II, Division of Gastroenterology, Saalfeld/Saale, Germany.

Turner syndrome can be manifest with a considerable genetic and phenotypic variability. This merely accounts for about 50% of patients who do not have the "classic" 45 X genotype. We report the case of a 42-year-old female patient with a 46, X, del (X) q 21 genotype (deletion on the second X chromosome on the long arm). Read More

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January 2019
1 Read

Ultrasonographic and multimodal imaging of pediatric genital female diseases.

J Ultrasound 2019 Feb 19. Epub 2019 Feb 19.

Department of Imaging, Bambino Gesù Children's Hospital Research Institute, P.za S.Onofrio 4, Via Torre di Palidoro, Palidoro, Rome, Italy.

Ultrasonography is the first-line imaging modality in the evaluation of the female pelvis in childhood and adolescence, because it is easy to perform, non-invasive and it does not require sedation. The transabdominal approach is preferred in children and adolescents, after filling the bladder to move away the bowel loops from the pelvis. The probe frequency must be adapted to age, thickness of tissues and depth of the structures under examination. Read More

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http://dx.doi.org/10.1007/s40477-019-00358-5DOI Listing
February 2019
3 Reads

The prevalence of menstrual disorders in Iran: A systematic review and meta-analysis.

Int J Reprod Biomed (Yazd) 2018 Nov;16(11):665-678

Department of Epidemiology and Reproductive Health, Reproductive Epidemiology Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.

Background: Understanding the prevalence of menstrual disorders has important implications for both health service planning and risk factor epidemiology.

Objective: The aim of this review is to identify and collate studies describing the prevalence of menstrual disorders in Iran.

Materials And Methods: Studies with original data related to the prevalence of menstrual disorders were identified via searching six electronic databases and reviewing citations. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350848PMC
November 2018
4 Reads

Severe forms of complete androgen insensitivity syndrome caused by a p.Q65X novel mutation in androgen receptor: Clinical manifestations, imaging findings and molecular genetics.

Steroids 2019 Apr 8;144:47-51. Epub 2019 Feb 8.

Children Inherited Metabolism and Endocrine Department, Guangdong Women and Children Hospital, No. 521 XingNan Road, Panyu District, Guangzhou, Guangdong 511400, PR China.

Androgen insensitivity syndrome (AIS), a rare X-linked recessive genetic disorder with a normal 46, XY karyotype, is caused by defect of androgen receptor gene (AR) leading to resistance of the target tissues to androgenic hormones. There is a wide spectrum of clinical presentations of AIS, ranging from male infertility, hypospadias to completely normal female external genitalia. Here, we describe a 15-year old, phenotypically female individual, who visited our clinic for primary amenorrhea. Read More

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http://dx.doi.org/10.1016/j.steroids.2019.02.007DOI Listing
April 2019
2 Reads

Effects of estrogen therapies on outcomes in Turner Syndrome: assessment of induction of puberty and adult estrogen use.

J Clin Endocrinol Metab 2019 Feb 6. Epub 2019 Feb 6.

Reproductive Medicine Unit, University College London Hospital, London, UK.

Context: Turner Syndrome (TS) is often associated with delayed puberty. To induce puberty, estrogen is administered in incremental doses at an age determined by age of presentation. After puberty, various types of maintenance Estrogen Replacement Therapy (ERT) are used. Read More

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http://dx.doi.org/10.1210/jc.2018-02137DOI Listing
February 2019
3 Reads
6.209 Impact Factor

Premature ovarian failure.

Cas Lek Cesk 2018 Dec;157(7):350-353

Premature ovarian failure is a heterogeneous disease that brings about several health risks. We must consider that the use of contraception in adolescent girls can mask this disease for a long time. Assisted reproductive technology has brought hope to women with premature ovarian failure to have their own child. Read More

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December 2018
1 Read

Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review.

Horm Res Paediatr 2019 Jan 9:1-10. Epub 2019 Jan 9.

Department of Paediatric Allergy and Immunology, Eskisehir Osmangazi University School of Medicine, Eskisehir, Turkey.

Background: The term "H syndrome" was coined to denote the major clinical findings, which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hyperglycaemia, hypogonadism, hallux flexion contractures, and short height.

Objective: To report the clinical, endocrinological, histochemical, and genetic findings of three siblings.

Methods: Skin and liver biopsies were taken to investigate the histochemical characteristics of hyperpigmented hypertrichotic skin lesions and massive hepatomegaly. Read More

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https://www.karger.com/Article/FullText/495190
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http://dx.doi.org/10.1159/000495190DOI Listing
January 2019
10 Reads

Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype-phenotype correlations.

Hum Genet 2019 Jan 2;138(1):83-92. Epub 2019 Jan 2.

Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), School of Life Sciences, Fudan University, Shanghai, 200011, China.

Premature ovarian insufficiency (POI) is a severe female disorder characterized by primary or secondary amenorrhea before 40 years of age. Genetic factors have been implicated in the pathogenesis of POI, but known POI-associated genes account for only a small fraction of heritability. Here, we performed whole-exome sequencing (WES) to explore pathogenic genes in Han Chinese subjects with POI. Read More

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http://dx.doi.org/10.1007/s00439-018-1962-4DOI Listing
January 2019
5 Reads

FSH β-subunit mutations in two sisters: the first report from the Indian sub-continent and review of previous cases.

Gynecol Endocrinol 2019 Jan 2:1-4. Epub 2019 Jan 2.

b Department of Zoology , University of Calcutta , Kolkata , India.

Isolated FSH deficiency due to mutations in the gene for β-subunit of FSH is an extremely rare autosomal recessive disease of which only eleven cases have been reported so far. The clinical features include absent breast development and primary amenorrhea in females and azoospermia with normal testosterone levels in males. In this study we report two Kashmiri sisters born to native Kashmiri consanguineous parents with failure of onset of puberty. Read More

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http://dx.doi.org/10.1080/09513590.2018.1529159DOI Listing
January 2019
2 Reads

Phenotypic variations in X chromosome mutations: Two case reports.

Case Rep Womens Health 2019 Jan 7;21:e00084. Epub 2018 Nov 7.

Program in Reproductive Endocrinology and Gynecology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.

Turner syndrome (TS) affects 1 in 2500 females. Monosomy X is the most common etiology, classically presenting with hypoestrogenemia and short stature. We present two cases of partial X chromosome deletions that do not reflect the typical phenotype of TS. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22149112183011
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http://dx.doi.org/10.1016/j.crwh.2018.e00084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305762PMC
January 2019
11 Reads

Medical and surgical abortion for women living with HIV.

Cochrane Database Syst Rev 2018 12 19;12:CD012834. Epub 2018 Dec 19.

Department of International Health, Social and Behavioral Interventions Program, Johns Hopkins Bloomberg School of Public Health, 615 N. Wolfe Street, Suite E5033, Baltimore, Maryland, USA, 21205.

Background: The World Health Organization (WHO) guidelines for safe abortion recommend medical abortion with mifepristone and misoprostol or surgical abortion with vacuum aspiration or dilation and evacuation as safe and effective options for women. However, no specific clinical considerations are stipulated within these guidelines for women living with HIV. Concerns have been raised that women living with HIV may be at greater risk of adverse abortion outcomes compared to HIV-uninfected women due to immunosuppression, high rates of co-infection with other sexually transmitted infections, and possible contraindications between medications used for medical abortion and antiretroviral therapy regimens. Read More

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http://doi.wiley.com/10.1002/14651858.CD012834.pub2
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http://dx.doi.org/10.1002/14651858.CD012834.pub2DOI Listing
December 2018
19 Reads

Gordon Holmes syndrome due to compound heterozygosity of two new variants - A diagnostic challenge.

eNeurologicalSci 2019 Mar 22;14:9-12. Epub 2018 Nov 22.

Department of Neurology, Centro Hospitalar do Porto, Porto, Portugal.

Background: Gordon Holmes syndrome (GHS), characterized by cerebellar ataxia and hypogonadotropic hypogonadism (HH), has been related to recessive mutations in gene.

Aims Of The Study: Describe one Portuguese family with GHS due to compound heterozygosity of two new variants.

Methods: Report on the clinical presentation, diagnostic and genetic workup to reach GHS diagnosis. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S24056502183005
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http://dx.doi.org/10.1016/j.ensci.2018.11.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275202PMC
March 2019
15 Reads

Vascular and cognitive effects of cocoa-rich chocolate in postmenopausal women: a study protocol for a randomised clinical trial.

BMJ Open 2018 Dec 14;8(12):e024095. Epub 2018 Dec 14.

Primary Health Care Research Unit, La Alamedilla Health Center, Institute of Biomedical Research of Salamanca (IBSAL), Health Service of Castilla y León (SACyL), Salamanca, Spain.

Introduction: The intake of polyphenols has certain health benefits. This study will aim to assess the effect of adding a daily amount of chocolate high in cocoa content and polyphenols to the normal diet on blood pressure, vascular function, cognitive performance, quality of life and body composition in postmenopausal women.

Methods And Analysis: Here we plan a randomised clinical trial with two parallel groups involving a total of 140 women between 50 and 64 years in the postmenopausal period, defined by amenorrhoea of ​​at least 12 consecutive months. Read More

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http://bmjopen.bmj.com/lookup/doi/10.1136/bmjopen-2018-02409
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http://dx.doi.org/10.1136/bmjopen-2018-024095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303642PMC
December 2018
16 Reads

Ovarian steroid cell tumor, not otherwise specified.

Pathologica 2018 09;110(2):121-122

Department of Pathology and Laboratory Medicine, Medanta-The Medicity, Sector-38, Gurgaon, Haryana 122 001, India.

Ovarian steroid cell tumours are rare virilizing tumours. They are three types of tumours of ovary which are characterized by steroid cell proliferation : Leydig cell tumour, steroid cell tumour, Not Otherwise Specified (NOS) and stromal luteoma. Here we present a case of 36 year old female, who presented with history of weight loss since last two and half months. Read More

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September 2018
14 Reads

Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review.

Front Genet 2018 27;9:529. Epub 2018 Nov 27.

Sheba Medical Center, Tel Hashomer and Tel Aviv University, Tel Aviv, Israel.

Abnormalities in the X-linked gene are associated with a constellation of disorders, which have broad and profound implications for the person first diagnosed, and extended family members of all ages. The rare and pleiotropic nature of the associated disorders, both common and not, place great burdens on (1) the affected families, (2) their care providers and clinicians, and (3) investigators striving to conduct research on the conditions. Fragile X syndrome, occurring more severely in males, is the leading genetic cause of intellectual disability. Read More

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http://dx.doi.org/10.3389/fgene.2018.00529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278244PMC
November 2018
1 Read

Resumption of Ovarian Function After Ovarian Biopsy/Scratch in Patients With Premature Ovarian Insufficiency.

Reprod Sci 2019 02 12;26(2):207-213. Epub 2018 Dec 12.

1 Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, People's Republic of China.

To evaluate the effect of ovarian biopsy and scratch on the resumption of ovarian function in women with premature ovarian insufficiency (POI), the follicle development and pregnancy outcome were retrospectively analyzed in women with POI after ovarian biopsy/scratch. Eighty patients with POI with secondary amenorrhea were accepted the laparoscopic surgery, and then hormone replacement treatment for 6 months was applied and in vitro fertilization and embryo transfer was suggested. No significant difference in clinical characteristics was observed before and after ovarian biopsy/scratch ( P > . Read More

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http://dx.doi.org/10.1177/1933719118818906DOI Listing
February 2019
7 Reads

[Eating disorders and fertility].

Psychiatr Hung 2018;33(4):331-339

Semmelweis Egyetem, Magatartástudomanyi Intezet, Budapest, Hungary, E-mail:

Common gynecological complications of various eating disorders include infertility, unwanted pregnancy, miscarriage, sexual dysfunction and complications in the treatment of gynecological cancers. Women with eating disorders typically see their gynecologists because of menstrual and other endocrine disorders or unexplained gastrointestinal symptoms, and often report on psychological symptoms (anxiety, depression or decreased libido). In spite of anovulation, menstruation may occur and ovulation without menstruation may be possible, which may lead to an increased incidence of unwanted pregnancies in case of prior or current eating disorders. Read More

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January 2018
1 Read

Vilaprisan in women with uterine fibroids: the randomized phase 2b ASTEROID 1 study.

Fertil Steril 2019 Feb 7;111(2):240-248. Epub 2018 Dec 7.

Bayer, Berlin, Germany.

Objectives: To assess the safety and efficacy of four vilaprisan doses (0.5-4.0 mg) in women with uterine fibroids. Read More

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http://dx.doi.org/10.1016/j.fertnstert.2018.10.012DOI Listing
February 2019
6 Reads
4.590 Impact Factor

Similarities and differences in the reproductive phenotypes of women with congenital hypogonadotrophic hypogonadism caused by GNRHR mutations and women with polycystic ovary syndrome.

Hum Reprod 2019 Jan;34(1):137-147

University of Paris-Sud and University Paris-Saclay, Le Kremlin-Bicêtre, France.

Study Question: Does the phenotype of women with normosmic congenital hypogonadotrophic hypogonadism (nCHH) and pituitary resistance to GnRH caused by biallelic mutations in the GnRH receptor (GNRHR) (nCHH/bi-GNRHR) differ from that of women with polycystic ovary syndrome (PCOS)?

Summary Answer: Women with nCHH/bi-GNRHR have variable pubertal development but nearly all have primary amenorrhea and an exaggerated LH response to GnRH stimulation, similar to that seen in women with PCOS.

What Is Known Already: Women with nCHH/bi-GNRHR are very rare and their phenotype at diagnosis is not always adequately documented. The results of gonadotrophin stimulation by acute GnRH challenge test and ovarian features have not been directly compared between these patients and women with PCOS. Read More

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https://academic.oup.com/humrep/advance-article/doi/10.1093/
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http://dx.doi.org/10.1093/humrep/dey339DOI Listing
January 2019
14 Reads

Bi-allelic recessive loss-of-function mutations in FIGLA cause premature ovarian insufficiency with short stature.

Clin Genet 2019 Mar 18;95(3):409-414. Epub 2018 Dec 18.

IVF Center, Department of Obstetrics and Gynecology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.

Premature ovarian insufficiency (POI) is a group of heterogeneous disorders characterized by decreased ovarian reserve and increased follicle stimulating hormone (FSH) levels. It is rarely associated with short stature. FIGLA mutations with POI are identified with regard to heterozygosity; till date, only one affected family has been identified with homozygous mutations in FIGLA but without functional evaluation. Read More

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http://dx.doi.org/10.1111/cge.13486DOI Listing
March 2019
4 Reads

Müllerian Aplasia with Severe Hematometra: A Case Report of Diagnosis and Management in a Low Resource Setting.

J Pediatr Adolesc Gynecol 2019 Apr 22;32(2):189-192. Epub 2018 Nov 22.

Department of Obstetrics and Gynecology, University of Iowa, Carver College of Medicine, Iowa City, Iowa.

Background: Müllerian aplasia or Mayer-Rokitansky-Küster-Hauser syndrome is described as congenital absence of the proximal vagina with or without absence of the cervix and uterus, most often recognized after the onset of primary amenorrhea.

Case: An 18-year-old woman presented to a free medical clinic in Arcahaie, Haiti with primary amenorrhea, abdominal distention, and cyclic monthly abdominal pain. Physical exam was significant for uterus palpable superior to the umbilicus, absence of vagina, and rectal exam without palpable vagina or cervix. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10833188183035
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http://dx.doi.org/10.1016/j.jpag.2018.11.006DOI Listing
April 2019
11 Reads

Female Pseudo Hermaphroditism: Late Onset Congenital Adrenal Hyperplasia.

J Ayub Med Coll Abbottabad 2018 Jul-Sep;30(3):458-462

Department of Obstetrics and Gynaecology, Foundation University Medical College /Fauji Foundation Hospital Rawalpindi, Pakistan.

Non-classic congenital adrenal hyperplasia is a genetic condition caused by deficiency of 21- hydroxylase deficiency (NCAH). It is a milder and later onset form of a genetic condition known as congenital adrenal hyperplasia. We present four cases of non-classical congenital adrenal hyperplasia presented in gynae OPD foundation university medical college Fauji foundation hospital from Jan 2016 to March 2017. Read More

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January 2019
22 Reads

New mutation causing androgen insensitivity syndrome - a case report and review of literature.

Gynecol Endocrinol 2018 Nov 19:1-4. Epub 2018 Nov 19.

d Department of Reproductive Biology and Stem Cells , Institute of Human Genetics, Polish Academy of Sciences , Poznan , Poland.

Androgen insensitivity syndrome (AIS) is a congenital disorder in which a defect in the androgen receptor (AR) gene leads to cellular resistance to androgens. Defects in the AR gene, located on the X chromosome, result in the development of a feminine phenotype in chromosomally male (46, XY) individuals. In this case report, we present a 44 years old patient with complete androgen insensitivity syndrome (CAIS) initially presenting with primary amenorrhea. Read More

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https://www.tandfonline.com/doi/full/10.1080/09513590.2018.1
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http://dx.doi.org/10.1080/09513590.2018.1529160DOI Listing
November 2018
11 Reads

Self-Reported Polycystic Ovary Syndrome Is Associated With Hypertension: A Northern Finland Birth Cohort 1966 Study.

J Clin Endocrinol Metab 2019 Apr;104(4):1221-1231

Department of Obstetrics and Gynecology, University of Oulu and Oulu University Hospital, Medical Research Center, PEDEGO Research Unit, Oulu, Finland.

Context: Polycystic ovary syndrome (PCOS) is associated with many traditional cardiovascular disease risk factors, but it is unclear whether PCOS is an independent risk factor for hypertension.

Objective: To investigate in a population-based setup whether PCOS associates with the risk of hypertension independently of body mass index (BMI) and with cardiovascular manifestations.

Design: Cross-sectional assessments in the Northern Finland Birth Cohort 1966 at ages 31 and 46 years. Read More

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https://academic.oup.com/jcem/advance-article/doi/10.1210/jc
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http://dx.doi.org/10.1210/jc.2018-00570DOI Listing
April 2019
13 Reads

Luteal phase stimulation, the future of fertility preservation? Retrospective cohort study of luteal phase versus follicular phase stimulation.

J Gynecol Obstet Hum Reprod 2019 Feb 12;48(2):91-94. Epub 2018 Nov 12.

Department of Gynecology, Centre Médico-Chirurgical d'Obstétrique (CMCO), Hôpitaux universitaires de Strasbourg, France.

Research Question: Is luteal phase stimulation capable of improving fertility preservation?

Materials And Methods: We performed a retrospective cohort study of consecutive ovarian stimulations, during July 2012 and September 2018 at Strasbourg University Teaching Hospital in France. Enrollment criteria were patients aged below 40 who had been referred to our center following a diagnosis of cancer or requiring gonadotoxic treatment. All patients enrolled had regular menstrual cycles and normal ovulation. Read More

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http://dx.doi.org/10.1016/j.jogoh.2018.11.003DOI Listing
February 2019
3 Reads

Female Athlete Triad.

Prim Care 2018 Dec 4;45(4):615-624. Epub 2018 Oct 4.

KentuckyOne Health, University of Louisville, Louisville, KY, USA; Department of Family and Geriatric Medicine, Centers for Primary Care, University of Louisville, 215 Central Avenue, Suite 205, Louisville, KY 40208, USA.

The female athlete triad is a condition seen in physically active female athletes, consisting of low energy availability, menstrual dysfunction, and low bone mineral density. The condition should be viewed as a metabolic injury. It can have an impact on female athletes at any age or level. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00954543183006
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http://dx.doi.org/10.1016/j.pop.2018.07.004DOI Listing
December 2018
20 Reads

Being Reproductive.

Prim Care 2018 Dec 5;45(4):587-598. Epub 2018 Oct 5.

Department of Family Medicine, The Ohio State University, 2231 North High Street, Columbus, OH 43201, USA.

Women's reproductive health maintenance begins in the early years of growth and development. Routine care is the basis for early detection of menstrual dysfunction and delays or acceleration of physical development. Patients and their families may not address menstruation concerns because of the sensitive nature of the topic, the patient's self-conscious attitudes, and the parent's apprehension. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00954543183006
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http://dx.doi.org/10.1016/j.pop.2018.07.003DOI Listing
December 2018
22 Reads

Virilising ovarian tumors: a single center experience.

Endocr Connect 2018 Nov 1. Epub 2018 Nov 1.

N Shah, Mumbai, 400012, India.

Aims: Literature on virilising ovarian tumors (VOT) is limited to case reports and series reporting single pathological type. We have analyzed the clinical, hormonal, radiological, histological, management and outcome data of VOT.

Materials And Methods: This retrospective study was conducted at a tertiary health care center from Western India. Read More

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http://dx.doi.org/10.1530/EC-18-0360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280592PMC
November 2018
23 Reads

Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National Survey.

J Clin Res Pediatr Endocrinol 2018 Nov 5. Epub 2018 Nov 5.

Objective: We aimed to study the characteristics on admission, diagnosis, treatment, and follow-up of hyperprolactinemic cases in a large multicenter study.

Methods: We reviewed 233 hyperprolactinemic patients under 18 years of age who were followed by different centers. The patients were divided as having microadenomas, macroadenomas, drug-induced hyperprolactinemia, and idiopathic hyperprolactinemia. Read More

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http://cms.galenos.com.tr/Uploads/Article_19906/JCRPE-0-0-En
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http://dx.doi.org/10.4274/jcrpe.0206DOI Listing
November 2018
11 Reads

Bevacizumab for Hearing Preservation in Neurofibromatosis Type 2: Emphasis on Patient-Reported Outcomes and Toxicities.

Otolaryngol Head Neck Surg 2019 Mar 30;160(3):526-532. Epub 2018 Oct 30.

1 Department of Pediatric Hematology/Oncology, University of Minnesota, Minneapolis, Minnesota, USA.

Objective: Bevacizumab for hearing preservation in patients with neurofibromatosis type 2 (NF2) is an emerging practice. We set out to characterize the effectiveness and toxicity of bevacizumab in our patient group.

Study Design: Case series with chart review. Read More

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http://journals.sagepub.com/doi/10.1177/0194599818809085
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http://dx.doi.org/10.1177/0194599818809085DOI Listing
March 2019
21 Reads

Consequences of premature ovarian insufficiency on women's sexual health.

Prz Menopauzalny 2018 Sep 30;17(3):127-130. Epub 2018 Sep 30.

Department of Gynaecological Endocrinology, Poznan University of Medical Sciences, Poznan, Poland.

Premature ovarian insufficiency (POI) is defined by amenorrhoea and decreased serum levels of oestrogens associated with increased serum gonadotropins concentrations before the age of 40 years. Patients suffering from POI present with irregular menses, either secondary or (less common) primary amenorrhoea, and subfertility. POI affects approximately 1 in 100 women by the age 40 years and 0. Read More

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http://dx.doi.org/10.5114/pm.2018.78557DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196782PMC
September 2018
12 Reads

Emergence of a latent TSHoma pituitary macroadenoma on a background of primary autoimmune hypothyroidism

Endocrinol Diabetes Metab Case Rep 2018 Sep 25;2018. Epub 2018 Sep 25.

Leighton Hospital, Crewe, Crewe, UK

The coexistence of primary hypothyroidism and thyroid-stimulating hormone (TSH)-stimulating pituitary macroadenoma can be a rare occurrence and can make diagnosis very challenging. We describe a case of a 44-year-old female with a history of fatigue, poor concentration, weight gain and amenorrhoea together with biochemical evidence of primary autoimmune hypothyroidism. Her initial TSH levels were elevated with low normal free thyroxine (T4) levels. Read More

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http://dx.doi.org/10.1530/EDM-18-0083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169537PMC
September 2018
5 Reads

Primary amenorrhoea and clitoromegaly in a nulliparous woman: successful medical and surgical management.

BMJ Case Rep 2018 Sep 30;2018. Epub 2018 Sep 30.

Department of Obstetrics and Gynaecology, Hamdard Institute of Medical Sciences and Research, New Delhi, India.

Clitoromegaly is an important sign of virilisation and poses difficulty in sex determination, when present since birth. The diagnosis and treatment in an adult is a major challenge to the treating gynaecologist. The primary reason for its development is androgen excess due to congenital adrenal hyperplasia, polycystic ovarian syndrome, ovarian virilising tumours, neurofibromas, adrenal neoplasm and prolonged intake of anabolic steroids. Read More

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http://dx.doi.org/10.1136/bcr-2018-226122DOI Listing
September 2018
10 Reads

The gonadotropin system, lessons from animal models and clinical cases.

Minerva Ginecol 2018 Oct 26;70(5):561-587. Epub 2018 Sep 26.

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This review article centers upon family of gonadotropin hormones which consists of two pituitary hormones - follicle-stimulating hormone (FSH) and luteinizing hormone (LH) as well as one non-pituitary hormone - human chorionic gonadotropin (hCG) secreted by placenta, and their receptors. Gonadotropins play an essential role in proper sexual development, puberty, gametogenesis, maintenance of pregnancy and male sexual differentiation during the fetal development. They belong to the family of glycoprotein hormones thus they constitute heterodimeric proteins built of common α subunit and hormone-specific β-subunit. Read More

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http://dx.doi.org/10.23736/S0026-4784.18.04307-1DOI Listing
October 2018
7 Reads

Gonadal function and pubertal development in patients with Silver-Russell syndrome.

Hum Reprod 2018 11;33(11):2122-2130

Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Centre, Rotterdam, The Netherlands.

Study Question: Is gonadal function affected in males and females with Silver-Russell Syndrome (SRS)?

Summary Answer: Sertoli cell dysfunction is more common in males with SRS, with 11p15 LOM, but gonadal function seems to be unaffected in females with SRS.

What Is Known Already: Males with SRS have an increased risk for genital abnormalities such as cryptorchidism and hypospadias, which could be associated with reproductive problems in later life. In SRS females, an association has been described with Mayer-Rokitansky-Küster-Hauser syndrome, which might compromise their reproductive function. Read More

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http://dx.doi.org/10.1093/humrep/dey286DOI Listing
November 2018
4 Reads

Individualized Prediction of Menses Recovery After Chemotherapy for Early-stage Breast Cancer: A Nomogram Developed From UNICANCER PACS04 and PACS05 Trials.

Clin Breast Cancer 2019 Feb 23;19(1):63-70. Epub 2018 Aug 23.

Department of Medical Oncology, Institut Gustave Roussy, Villejuif, France.

Background: The likelihood of menses recovery varies greatly in premenopausal patients receiving adjuvant chemotherapy for breast cancer. Quantifying this probability for each patient could better inform the chemotherapy discussion and individualize fertility counseling. We performed a pooled analysis of the PACS04 and PACS05 adjuvant randomized trials to develop a nomogram to estimate the probability of menses recovery at 3, 6, and 18 months after the end of adjuvant chemotherapy. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S15268209183026
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http://dx.doi.org/10.1016/j.clbc.2018.08.005DOI Listing
February 2019
27 Reads

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

J Med Case Rep 2018 Sep 17;12(1):268. Epub 2018 Sep 17.

Department of Physiological Sciences, Faculty of Basic Medical Sciences, College of Health Sciences, Obafemi Awolowo University, Ile-Ife, Nigeria.

Background: 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. Read More

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http://dx.doi.org/10.1186/s13256-018-1793-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139907PMC
September 2018
3 Reads

Primary cervico-uterine anastomosis in a patient with agenesis of the uterine isthmus: A case report and review.

J Obstet Gynaecol Res 2018 Dec 9;44(12):2199-2203. Epub 2018 Sep 9.

Department of Obstetrics and Gynecology, Texas Tech University Health Sciences Center, Lubbock, Texas, USA.

Arrested caudal extension of the fused Müllerian ducts, either complete or segmental, causes obstruction of the outflow tract. We describe a case of agenesis of the uterine isthmus and the procedure to establish the continuity of the outflow tract. A 15-year-old girl with cyclic pelvic pain and amenorrhea was found to have a 3-cm gap between the uterine body and the cervix. Read More

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http://dx.doi.org/10.1111/jog.13779DOI Listing
December 2018
11 Reads