3,031 results match your criteria Amenorrhea Primary


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 Feb 8. Epub 2019 Feb 8.

Children Inherited Metabolism and Endocrine Department, Guangdong Women and Children Hospital, No. 521 XingNan Road, Panyu District, Guangzhou, Guangdong 511400, P.R.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
February 2019
1 Read

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
2 Reads

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
5 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
2 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
1 Read

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
5 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
8 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
10 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
9 Reads

Ovarian steroid cell tumor, not otherwise specified.

Pathologica 2018 Sep;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
9 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 2018 Dec 12:1933719118818906. Epub 2018 Dec 12.

1 Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, 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
December 2018
2 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
1 Read
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
10 Reads

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

Clin Genet 2018 Nov 25. Epub 2018 Nov 25.

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
November 2018
2 Reads

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

J Pediatr Adolesc Gynecol 2018 Nov 22. 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
November 2018
9 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
19 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
6 Reads

Self-reported Polycystic Ovary Syndrome is Associated with Hypertension: A Northern Finland Birth Cohort 1966 Study.

J Clin Endocrinol Metab 2018 Nov 15. Epub 2018 Nov 15.

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

Context: 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 set-up 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. 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
November 2018
8 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
1 Read

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
14 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
11 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
13 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
6 Reads

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

Otolaryngol Head Neck Surg 2018 Oct 30:194599818809085. 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
October 2018
16 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
6 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
2 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
3 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
6 Reads

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

Hum Reprod 2018 Nov;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
2 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
16 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
2 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
6 Reads

Mosaic Turner syndrome shows reduced penetrance in an adult population study.

Genet Med 2018 Sep 5. Epub 2018 Sep 5.

Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK.

Purpose: Many women with X chromosome aneuploidy undergo lifetime clinical monitoring for possible complications. However, ascertainment of cases in the clinic may mean that the penetrance has been overestimated.

Methods: We characterized the prevalence and phenotypic consequences of X chromosome aneuploidy in a population of 244,848 women over 40 years of age from UK Biobank, using single-nucleotide polymorphism (SNP) array data. Read More

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http://www.nature.com/articles/s41436-018-0271-6
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http://dx.doi.org/10.1038/s41436-018-0271-6DOI Listing
September 2018
20 Reads

Complete Androgen Insensitivity Syndrome due to Mutations in the DNA-Binding Domain of the Human Androgen Receptor Gene.

Sex Dev 2018 Aug 31. Epub 2018 Aug 31.

Androgen insensitivity syndrome (AIS) is an X-linked recessive disorder with a 46,XY karyotype caused by alterations in the androgen receptor (AR) gene. We have identified 2 mutations in the AR gene that resulted in complete androgen insensitivity syndrome (CAIS) in 2 unrelated cases. This study includes cytogenetics, hormonal, molecular, and bioinformatics analysis including sequencing of the SRY (sex-determining region Y) and AR genes. Read More

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http://dx.doi.org/10.1159/000492261DOI Listing
August 2018
3 Reads

Primary pigmented nodular adrenocortical disease (PPNAD) as an underlying cause of symptoms in a patient presenting with hirsutism and secondary amenorrhea: case report and literature review.

Gynecol Endocrinol 2018 Dec 21;34(12):1022-1026. Epub 2018 Aug 21.

a Department of Endocrinology, Metabolism and Internal Medicine , Poznan University of Medical Sciences , Poznan , Poland.

Hypercortisolemia in females may lead to menstrual cycle disturbances, infertility, hirsutism and acne. Herewith, we present a 18-year-old patient, who was diagnosed due to weight gain, secondary amenorrhea, slowly progressing hirsutism, acne and hot flashes. Thorough diagnostics lead to a conclusion, that the symptoms was the first manifestation of primary pigmented nodular adrenocortical disease (PPNAD). Read More

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http://dx.doi.org/10.1080/09513590.2018.1493101DOI Listing
December 2018
5 Reads

Complete Kisspeptin Receptor Inactivation Does Not Impede Exogenous GnRH-Induced LH Surge in Humans.

J Clin Endocrinol Metab 2018 Dec;103(12):4482-4490

Paris Diderot University, Sorbonne Paris Cité, U1141, Inserm, Paris, France.

Context: Mutations in the kisspeptin receptor (KISS1R) gene have been reported in a few patients with normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110).

Objectives: To describe a female patient with nCHH and a novel homozygous KISS1R mutation and to assess the role of kisspeptin pathway to induce an ovulation by GnRH pulse therapy.

Design, Setting, And Intervention: Observational study of a patient including genetic and kisspeptin receptor functions and treatment efficiency using a GnRH pump. Read More

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http://dx.doi.org/10.1210/jc.2018-00410DOI Listing
December 2018
7 Reads

Müllerian Agenesis Masquerading as Secondary Amenorrhea.

Case Rep Pediatr 2018 19;2018:6912351. Epub 2018 Jul 19.

Department of General Pediatrics and Adolescent Medicine, University Hospitals Cleveland Medical Center, Case Western Reserve University School of Medicine, Cleveland, OH, USA.

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. Read More

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http://dx.doi.org/10.1155/2018/6912351DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079514PMC
July 2018
11 Reads

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

Front Genet 2018 3;9:292. Epub 2018 Aug 3.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, United States.

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). Read More

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https://www.frontiersin.org/article/10.3389/fgene.2018.00292
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http://dx.doi.org/10.3389/fgene.2018.00292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6086008PMC
August 2018
16 Reads

Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2).

J Clin Endocrinol Metab 2018 Oct;103(10):3748-3756

Division of Endocrinology, University of Fribourg, Fribourg, Switzerland.

Context: Estrogen resistance due to mutations in the estrogen receptor α gene (ESR1) has been described in men and women and is characterized by osteoporosis, delayed bone age and continuous growth in adulthood, and delayed puberty and multiple ovarian cysts in women. Although mutations in the estrogen receptor β gene ESR2 were found in 46, XY patients with differences of sex development, no genetic variants of ESR2 were linked to gonadal defects in women.

Settings And Patient: Here we describe a 16-year-old female patient who came to our tertiary care hospital with complete lack of estrogen action, as demonstrated by absent breast development, primary amenorrhea, and osteoporosis, resembling patients with ESR1 mutation. Read More

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https://academic.oup.com/jcem/article/103/10/3748/5063510
Publisher Site
http://dx.doi.org/10.1210/jc.2018-00769DOI Listing
October 2018
12 Reads

Complete androgen insensitivity syndrome in a young woman with metabolic disorder and diabetes: A case report.

Medicine (Baltimore) 2018 Aug;97(33):e11353

Department of Endocrinology & Metabolism, Shanghai Tenth People's Hospital, Tongji University School of Medicine.

Rationale: Androgen insensitivity syndrome (CAIS) is a rare X-linked recessive androgen receptor disorder characterized by complete resistance to the actions of androgen in an individual with 46,XY karyotype. Metabolic disorder and diabetes has been rarely reported in these patients.

Patient Concerns: A 22-year-old female patient was admitted to our center for the evaluation of high blood sugar. Read More

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http://Insights.ovid.com/crossref?an=00005792-201808170-0000
Publisher Site
http://dx.doi.org/10.1097/MD.0000000000011353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6112890PMC
August 2018
12 Reads

[17α-Hydroxylase deficiency with severe hypertension as the initial symptom in a child].

Zhongguo Dang Dai Er Ke Za Zhi 2018 Aug;20(8):675-679

Department of Pediatrics, Peking University Third Hospital, Beijing 100191, China.

A 14-year-old female (social gender) patient was admitted to the hospital due to severe hypertension for 11 days. The patient had primary amenorrhea. The blood pressure was 146/90 mm Hg. Read More

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August 2018
7 Reads

Congenital vesicouterine fistulas-A PRISMA-compliant systematic review.

Neurourol Urodyn 2018 Nov 14;37(8):2361-2367. Epub 2018 Aug 14.

Chair of Clinical Sciences, Faculty of Health Sciences, State Higher School of Computer Science and Business Administration, Łomża, Poland.

Aims: Vesicouterine fistulas (VUFs) are infrequent abnormal connections between the bladder and the uterine cavity or cervical canal, being mainly sequelae of repeat Cesarean sections. Exceedingly rare are congenital VUFs. This is a systematic review of available world data aimed to characterize congenital VUFs and better understand the mechanism(s) of their formation. Read More

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http://dx.doi.org/10.1002/nau.23795DOI Listing
November 2018
4 Reads

Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients.

Mol Genet Genomic Med 2018 11 11;6(6):1225-1228. Epub 2018 Aug 11.

Institute of Human Genetics, University of Münster, Münster, Germany.

Background: Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is the second most common cause of primary amenorrhea and characterized by absence of the uterus and the upper part of the vagina. The etiology of MRKH is mainly unknown but a contribution of genomic alterations is probable. A molecular disturbance so far neglected in MRKH research is aberrant methylation at imprinted loci. Read More

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http://doi.wiley.com/10.1002/mgg3.426
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http://dx.doi.org/10.1002/mgg3.426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305658PMC
November 2018
8 Reads

Multiorgan system structural malformations associated with Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) type 2: avoiding pitfalls in diagnosis, counseling and treatment.

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

Department of Ob/Gyn, Texas Tech University Health Science Center School of Medicine, Amarillo, Texas, USA.

An 18-year-old virginal woman was referred to the reproductive endocrinology clinic with primary amenorrhoea and secondary sexual development in the absence of pelvic pain. Additionally, she had significant congenital sensorineural hearing loss, autism, bipolar disorder and class III obesity. On physical examination, secondary sexual development was confirmed (Tanner 5 breasts and Tanner 4 pubic hair). Read More

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http://dx.doi.org/10.1136/bcr-2018-225977DOI Listing
July 2018
7 Reads

Infertility secondary to a pituitary adenoma.

JAAPA 2018 Aug;31(8):26-28

Danielle O'Laughlin practices primary care internal medicine at the Mayo Clinic in Rochester, Minn. The author has disclosed no potential conflicts of interest, financial or otherwise.

Evaluating patients for infertility is common in the primary care setting and can involve multiple differentials and treatment options. This case report describes a 34-year-old woman whose infertility evaluation led to the diagnosis of a pituitary adenoma. Read More

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http://dx.doi.org/10.1097/01.JAA.0000533659.78664.a5DOI Listing
August 2018
1 Read

A Cross-Sectional and Longitudinal Analysis of Trabecular Bone Score in Adults With Turner Syndrome.

J Clin Endocrinol Metab 2018 Oct;103(10):3792-3800

Department of Endocrinology, Monash Health, Clayton, Victoria, Australia.

Context: Turner syndrome (TS) is associated with short stature, gonadal failure, and fractures. Spinal trabecular bone score (TBS) is a novel bone imaging modality that has not been evaluated in TS.

Objective: To evaluate TBS in TS and its association with bone mineral density (BMD), prevalent fracture, and risk factors. Read More

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https://academic.oup.com/jcem/article/103/10/3792/5055113
Publisher Site
http://dx.doi.org/10.1210/jc.2018-00854DOI Listing
October 2018
8 Reads

CHORIORETINAL CHANGES IN A GENETICALLY CONFIRMED CASE OF BOUCHER-NEUHÄUSER SYNDROME.

Retin Cases Brief Rep 2018 Jul 13. Epub 2018 Jul 13.

Department of Ophthalmology and Visual Sciences, Montefiore Medical Center, Bronx, New York.

Purpose: To describe the retinal findings in a 25-year-old white woman in whom a diagnosis of Boucher-Neuhäuser Syndrome (BNS) was supported by genetic testing, which identified a missense and novel nonsense mutation in the PNPLA6 gene.

Methods: Observational case report of a 25-year-old woman who presented with primary amenorrhea, cerebellar ataxia, and mild retinal pigmentary abnormalities. Neurologic, endocrine, and genetic evaluations established a diagnosis of BNS. Read More

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http://dx.doi.org/10.1097/ICB.0000000000000769DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330241PMC
July 2018
17 Reads