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Mol Med Rep 2020 Jun 12. Epub 2020 Jun 12.

Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, P.R. China.

Autoimmune polyendocrine syndrome type 1 (APS‑1) is a rare inherited autoimmune disease, characterized by a classic triad, including chronic mucocutaneous candidiasis, primary adrenocortical insufficiency and hypoparathyroidism. The present study investigated phenotypes and pathogenic variants in a Chinese woman with non‑classical APS‑1. Disease‑associated variants in a patient with APS‑1 were identified via targeted next generation sequencing and the variant was confirmed via Sanger sequencing. Read More

Int J Hyperthermia 2020 ;37(1):772-776

Department of Obstetrics and Gynecology, Chung-Ang University School of Medicine, Seoul, South Korea.

To evaluate the safety and efficacy of a radiofrequency ablation system with a novel endometrial tip (RFA-EMT) for the management of heavy menstrual bleeding (HMB) or abnormal uterine bleeding (AUB). This is a prospective study including a total of 38 premenopausal women with heavy menstrual bleeding (HMB) or abnormal uterine bleeding (AUB) that failed to respond to medical therapy. Hysteroscopic evaluation and curettage biopsy were performed just before the procedure. Read More

World J Clin Cases 2020 Jun;8(12):2647-2654

Department of Hepatobiliary, Hebei General Hospital, Shijiazhuang 050017, Hebei Province, China.

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary disorder caused by mutations of the gene. It is characterized by hyperparathyroidism and involves the pancreas, anterior pituitary, duodenum, and adrenal gland. Here, we report a 40-year-old male patient with MEN1 who first manifested as thymic carcinoid, then primary hyperparathyroidism and prolactinoma, and a decade later pancreatic neuroendocrine tumor. Read More

BMC Womens Health 2020 Jun 29;20(1):135. Epub 2020 Jun 29.

University Hospital Tübingen, Department of Women's Health, Tübingen, Germany.

Background: The Mayer-Rokitansky-Küster-Hauser syndrome, MRKHS, is a rare (orphan) disease characterized by the aplasia or hypoplasia of the uterus and the vagina. In women's health research, little is known as to how much care provision for patients with MRKHS takes into account their socio-demographic together with their clinical characteristics. This work examines the patients' socio-demographic characteristics, highlighting issues of inappropriate and deficient provision of care. Read More

PLoS One 2020 29;15(6):e0231856. Epub 2020 Jun 29.

Exeltis Europe, Ismaning, Germany.

Background: Progestin-only pills are associated with irregular bleeding pattern including amenorrhea. Desogestrel 75mcg even being a pill that inhibits ovulation shows a poor cycle control that limits a more common use. A drospirenone (DRSP)-only pill was developed to improve the bleeding profile. Read More

Front Pediatr 2020 11;8:304. Epub 2020 Jun 11.

Fondation Ophtalmologique Adolphe de Rothschild and Université Paris Descartes, Paris, France.

In patients with pituitary stalk interruption syndrome (PSIS), long-term follow-up is necessary to address their gonadotrophic status. The objectives of this study were (1) to describe pubertal features of and (2) to assess the ability of serum inhibin B concentration to predict hypogonadotropic hypogonadism (HH) in patients with PSIS. This retrospective single-center study included 35 patients with PSIS and known gonadotrophic status for whom a serum sample preserved at -22°C (collected at initial evaluation or later) was available for measuring inhibin B by the same hormonal immunoassay method. Read More

J Indian Assoc Pediatr Surg 2020 May-Jun;25(3):184-186. Epub 2020 Apr 11.

Department of Paediatric Surgery, Seth GS Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India.

Cervical atresia is a rare association with anorectal malformation (ARM) which can be missed till puberty in the presence of normal vaginal orifice. A 12-year-old girl operated for ARM in neonatal age presented with primary amenorrhea. She had a normal vaginal opening, short perineal body, and prolapsed anteposed anus and was diagnosed with cervical agenesis. Read More

Arch Dis Child Educ Pract Ed 2020 Jun 19. Epub 2020 Jun 19.

Paediatric Endocrinology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

Puberty is a life-changing time in the life of a young person, with physical, psychological and social considerations. Amenorrhea is derived from Latin: a-'not', men-'month' and rhein-'flow', meaning absence of monthly flow. In medical terms, it is a symptom describing absence of menstruation. Read More

J Pediatr Adolesc Gynecol 2020 Jun 16. Epub 2020 Jun 16.

Department of Geriatric Endocrinology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Shandong, Jinan, China. Electronic address:

Background: To date, only 23 cases of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with duplex kidney have been reported. We present the first reported case of MRKH syndrome with solitary duplex kidney and anal stenosis.

Case: A 17-year-old Chinese girl presented with primary amenorrhea and fully developed secondary sexual characteristics. Read More

Eur J Obstet Gynecol Reprod Biol 2020 May 31;252:7-14. Epub 2020 May 31.

Bayer AG, Müllerstraße 178, 13342, Berlin, Germany. Electronic address:

Objective: To assess the efficacy of vilaprisan compared with placebo in the management of the symptoms of uterine fibroids (UF), with a secondary objective to provide a descriptive comparison with ulipristal acetate.

Study Design: The randomized, parallel-group, double-blind, placebo- and active-controlled, multicenter ASTEROID 2 trial assessed the efficacy and safety of vilaprisan versus placebo and ulipristal acetate for two 12-week treatment periods in women with ≥1 UF experiencing heavy menstrual bleeding (HMB). The primary endpoint compared the efficacy of vilaprisan with placebo at 12 weeks, assessed as the absence of bleeding/spotting by bleeding diary. Read More

Endocr J 2020 Jun 18. Epub 2020 Jun 18.

Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo 183-8561, Japan.

Osteoporosis is one of the clinical features of women with Turner syndrome (TS). The reasons for low bone mineral density (BMD) and increased bone fragility are multifactorial, including estrogen deficiency, X-chromosome abnormalities, and environmental factors. Few, large-scale studies on bone mineral density in either adolescents or adults with TS have been done in Japan. Read More

J Int Med Res 2020 Jun;48(6):300060520931319

Department of Gynaecology, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang Province, China.

Cases of urogenital sinus malformation with a huge calculus are complex and rare. Improper nursing care of these cases can lead to a series of problems. We report here a 23-year-old married woman who was admitted to hospital because of primary amenorrhea and failed sexual intercourse for 5 years. Read More

Front Endocrinol (Lausanne) 2020 29;11:350. Epub 2020 May 29.

Section of Endocrinology, Diabetes and Metabolism, Department of Medicine, Baylor College of Medicine, Houston, TX, United States.

Hypophysitis is primary or idiopathic or secondary to another disease process. The histologic subtypes of hypophysitis are lymphocytic, granulomatous, xanthomatous, xanthogranulomatous, or IgG4-related. Granulomatous hypophysitis is the second most common form and is characterized by multinucleated giant cells with granulomas and histiocytes. Read More

AACE Clin Case Rep 2020 May-Jun;6(3):e117-e122. Epub 2020 May 11.

Objective: Disorders of sex development (DSD) are defined as conditions in which chromosomal sex is inconsistent with phenotypic sex, or in which the phenotype is not classifiable as either male or female. Mutations in genes present in X, Y or autosomal chromosomes can cause abnormalities of testis determination or 46,XY DSD. Leydig cell hypoplasia (LCH), also known as Leydig cell agenesis, is a rare autosomal recessive endocrine syndrome of 46,XY DSD. Read More

Climacteric 2020 Jun 10:1-6. Epub 2020 Jun 10.

A. I. Evdokimov Moscow State Medical-Dental University, Moscow, Russia.

The aims of the study were to estimate markers of mineral turnover and bone mineral density (BMD) in young women with central hypogonadism (CH) in comparison with healthy young and postmenopausal women, and to reveal the possible impact of different factors on BMD. We examined 73 patients with CH (mean age 25 [21.2; 30. Read More

J Obstet Gynaecol Res 2020 Jun 8. Epub 2020 Jun 8.

Department of Genetics, Vivekananda Institute of Medical Sciences, Kolkata, India.

Aim: This comprehensive review article aims to comprehend the frequency and prevalence of chromosomal abnormalities in both primary amenorrhea (PA) and secondary amenorrhea (SA) cases and correlating it with their phenotypes, clinical features and hormonal profiles.

Methods: Research publications on prevalence of chromosomal abnormalities in both PA and SA cases worldwide and its etiology, clinical features, hormonal profiles; their correlation with chromosomal profiles were searched for on the internet, including general search engines and respective scientific sites. Only published, relevant and authentic data conducted on phenotypically female patients were considered. Read More

Fertil Steril 2020 Jul 4;114(1):44-55. Epub 2020 Jun 4.

ObsEva S.A, Geneva, Switzerland. Electronic address:

Objective: To study the effect of a new investigational oral gonadotropin-releasing hormone antagonist, linzagolix, on endometriosis-associated pain (EAP).

Design: A multinational, parallel group, randomized, placebo-controlled, double-blind, dose-ranging trial.

Setting: Clinical centers. Read More

Int J Surg Case Rep 2020 6;71:371-373. Epub 2020 Feb 6.

NKP Salve Institute of Medical Sciences, Nagpur, India.

Background: Androgen Insensitivity Syndrome (AIS) is a rare X-linked recessive androgen receptor (AR) disorder with 46XY karyotype. Partial AIS affects 5-7 per 1,000,000 genetically male individuals whereas Complete AIS affects 2-5 per 100,000 genetically male individuals. CAIS CAIS is characterized by complete resistance to the action of androgens. Read More

Endocrinol Diabetes Metab Case Rep 2020 Apr 29;2020. Epub 2020 Apr 29.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development.

Summary: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of ACTH-independent Cushing syndrome (CS). This condition is characterized by glucocorticoid and/or mineralocorticoid excess, and is commonly regulated by aberrant G-protein coupled receptor expression may be subclinical, allowing the disease to progress for years undetected. Inhibin A is a glycoprotein hormone and tumor marker produced by certain endocrine glands including the adrenal cortex, which has not been previously investigated as a potential tumor marker for PBMAH. Read More

Contraception 2020 May 26. Epub 2020 May 26.

Department of Obstetrics and Gynecology, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil. Electronic address:

Objective: To evaluate the efficacy of a levonorgestrel 52-mg intrauterine system (LNG 52-mg IUS) in controlling abnormal uterine bleeding and improving quality of life in women with inherited bleeding disorders.

Study Design: We assessed 20 participants laboratory diagnosed with inherited bleeding disorders, who presented with abnormal uterine bleeding and were registered in a Central Blood Center. The primary outcomes were menstrual bleeding volume and quality of life before and after LNG 52-mg IUS placement. Read More

Medicine (Baltimore) 2020 May;99(20):e20199

Reproductive and Genetic Center of Integrated Traditional and Western Medicine, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Shandong Province.

Introduction: Resistance ovary syndrome (ROS) is a disease characterized by hypergonadotropic amenorrhea but with normal ovarian reserve. Currently, its pathogenesis is still unclear and the treatment methods are complex. Nevertheless, there are evident negative effects of this disease on females' physical and mental health such as gonadal dysplasia, infertility, anxiety, and depression. Read More

Eur J Cancer 2020 Jul 19;133:56-65. Epub 2020 May 19.

Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, South Korea.

Background: This study assessed the effects of gonadotropin-releasing hormone agonists (GnRHa) on the prevention of chemotherapy-induced ovarian insufficiency among young patients with malignant ovarian germ cell tumour (MOGCT) receiving chemotherapy.

Methods: This multicentre, retrospective study was conducted at 15 sites affiliated with the Korean Gynecologic Oncology Group and enrolled 354 patients between January 1995 and September 2018. Among them, 227 patients were included in this study and divided into two groups according to the use of GnRHa during chemotherapy (GnRHa versus no GnRHa groups). Read More

Mol Hum Reprod 2020 May 13. Epub 2020 May 13.

Department of Molecular Biology, Instituto de Investigaciones Biológicas Clemente Estable (IIBCE), Montevideo, Uruguay.

More than 50% of cases of primary ovarian insufficiency (POI) and nonobstructive azoospermia in humans are classified as idiopathic infertility. Meiotic defects may relate to at least some of these cases. Mutations in genes coding for synaptonemal complex (SC) components have been identified in humans, and hypothesized to be causative for the observed infertile phenotype. Read More

J Pak Med Assoc 2020 May;70(5):888-891

Department of Pharmacy, Sarhad University of Science and Information Technology, Peshawar, Pakistan.

Objective: To determine the aetiological factors of amenorrhea.

Methods: The pilot cross-sectional study was conducted in Government Naserullah Khan Babar Memorial Hospital, Peshawar, Pakistan, from January 2015 to December 2017, and comprised amenorrhea cases. Cases were analysed according to their clinical profile, ultrasound findings and biochemical tests. Read More

J Pediatr Adolesc Gynecol 2020 May 5. Epub 2020 May 5.

Vilnius University, Faculty of Medicine, Clinic of Gastroenterology, Nephrourology and Surgery, Vilnius, Lithuania.

Background: Complete 46XY gonadal dysgenesis (Swyer syndrome) is a rare and challenging diagnosis among prepubertal girls, as estrogen insufficiency becomes evident only during adolescence, with nonspecific symptoms such as primary amenorrhea and/or delayed puberty. Unfortunately, girls with Swyer syndrome are at high risk for malignancies in the dysgenetic gonads, which can be prevented only by performing prophylactic bilateral gonadectomy.

Case: We present a 9-year-old patient with Swyer syndrome diagnosed with dysgerminoma in the right gonad and gonadoblastoma in the left gonad after prophylactic bilateral gonadectomy. Read More

Acta Endocrinol (Buchar) 2019 Oct-Dec;15(4):513-517

Jeonbuk National University Medical School - Department of Internal Medicine, Jeonju, Republic of Korea.

Background: The incidence of adrenal incidentaloma has been increasing proportional to the use of radiologic examination. Multiple endocrine neoplasia1 (MEN1) syndrome may present with various tumors. The present study reports a case of adrenal incidentaloma with unrecognised MEN1 syndrome associated with breast cancer. Read More

J Assist Reprod Genet 2020 Jun 5;37(6):1441-1448. Epub 2020 May 5.

Reproductive Medicine Center, Tongji Hospital, Tongji Medicine College, Huazhong University of Science and Technology, 1095 JieFang Avenue, Wuhan, 430030, People's Republic of China.

Objective: To characterize the clinical features of a female patient with isolated follicle-stimulating hormone (FSH) deficiency and to investigate the underlying mechanisms of FSH inactivation.

Methods: The proband was a 29-year-old woman with primary amenorrhea, impaired pubertal development, and infertility. Subsequently, reproductive endocrine was screened. Read More

Int J Clin Exp Pathol 2020 1;13(4):778-784. Epub 2020 Apr 1.

Department of Neurosurgery, the First Affiliated Hospital of Bengbu Medical College Bengbu, Anhui, China.

Background: Inflammatory pseudotumor (IPT) is a soft tissue lesion of unknown etiology. In 2002 the WHO classified it as a soft tissue tumor, and renamed it inflammatory myofibroblastic tumor. Inflammatory pseudotumor may involve various organs and tissues of the body, mainly the lungs and eyes. Read More

J Ovarian Res 2020 Apr 30;13(1):49. Epub 2020 Apr 30.

Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan, 250012, Shandong, China.

Purpose: Premature ovarian insufficiency (POI), which is characterized by early menopause before the age of 40 years, affects approximately 1-5% of women. Cytoplasmic polyadenylation element binding protein 1 (CPEB1) is a post-transcriptional regulatory protein that is highly expressed in germ cells and promotes oocytes maturation, and several studies have found microdeletions of chromosome 15q25.2, which contains the CPEB1 gene, in POI patients. Read More

Ital J Pediatr 2020 Apr 23;46(1):51. Epub 2020 Apr 23.

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.

Background: Mayer-Rokitansky-Küster-Hauser (MRKHS) syndrome refers to congenital hypoplasia/aplasia of the uterus, the cervix and the upper 2/3 of the vagina, in females with normal ovaries and fallopian tubes, secondary sexual characteristics and 46 XX karyotype. This condition originates from abnormal development of Müller's paramesonephric ducts in the early stages of embryonic development. Kidney agenesis or malformations are the most commonly associated with unilateral kidney agenesis. Read More

BMC Womens Health 2020 Apr 21;20(1):76. Epub 2020 Apr 21.

Gynaecology-Obstetrics and Endoscopy Department, Maternity Souissi, University Hospital Center IBN SINA, University Mohammed V, Rabat, Morocco.

Background: Congenital genital tract outflow obstruction may occur at different levels and with different clinical presentations. Winter syndrome was first described in 1968 as an association of renal, genital and middle ear anomalies. This syndrome is characterized by autosomal recessive transmission, unilateral or bilateral renal hypoplasia, distal vaginal atresia, and moderate to severe conductive hearing loss with malformation of the ossicles. Read More

Pituitary 2020 Jun;23(3):307-313

Pituitary Center, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

Hyperprolactinemia is associated with suppression of the hypothalamic- pituitary-gonadal axis and consequent hypogonadism, manifesting loss of libido, infertility and osteoporosis long-term in both male and female patients, with associated menstrual irregularities, amenorrhea and galactorrhea in women and erectile dysfunction in men. The primary goals of therapy in patients harboring prolactinoma are control of tumor size and normalization of serum PRL, with restoration of gonadal and sexual function and fertility. Clinical manifestations of hypogonadism have variable consequences depending on the age and sex of the patient and desire for fertility. Read More

Ned Tijdschr Geneeskd 2020 Feb 25;164. Epub 2020 Feb 25.

Radboudumc, afd. Verloskunde en Gynaecologie, Nijmegen.

Background: Urethral coitus is rare and can arise in women who were born without a vagina, for instance in the context of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.

Case Description: A 16-year-old girl presented at the general practitioner's surgery with primary amenorrhoea. After a long diagnostic process she was diagnosed with MRKH syndrome and treatment with a vaginal dilator was started. Read More

Gynecol Endocrinol 2020 Apr 6:1-6. Epub 2020 Apr 6.

Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in reproductive-aged women. A recent study found that many obstetrics and gynecology (ObGyn) practicing physicians are unaware of the Rotterdam criteria recommended for diagnosis. Our objective was to identify gaps in trainee knowledge of PCOS diagnostic criteria and management. Read More

Hum Reprod 2020 Apr;35(4):939-949

Department of Reproductive Medicine, Université de Lille, Centre Hospitalier Universitaire (CHU) Lille, F-59000 Lille, France.

Study Question: Can cytochrome P450 oxidoreductase deficiency (PORD) be revealed in adult women with menstrual disorders and/or infertility?

Summary Answer: PORD was biologically and genetically confirmed in five adult women with chronically elevated serum progesterone (P) who were referred for oligo-/amenorrhea and/or infertility.

What Is Known Already: PORD is an autosomal recessive disease typically diagnosed in neonates and children with ambiguous genitalia and/or skeletal abnormalities. It is responsible for the decreased activity of several P450 enzymes, including CYP21A2, CYP17A1 and CYP19A1, that are involved in adrenal and/or gonadal steroidogenesis. Read More

J Clin Endocrinol Metab 2020 Jun;105(6)

Universités Paris Sud, Paris Saclay, Faculté de Médecine; Unité de Génétique Moléculaire des Maladies Métaboliques et de la Reproduction, Hôpitaux Universitaires Paris-Sud, Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, France.

Context: Primary Ovarian insufficiency (POI) affects 1% of women aged <40 years and leads most often to definitive infertility with adverse health outcomes. Very recently, genes involved in deoxyribonucleic acid (DNA) repair have been shown to cause POI.

Objective: To identify the cause of a familial POI in a consanguineous Turkish family. Read More

Medicine (Baltimore) 2020 Mar;99(13):e19649

Departments of Gynecology.

Rationale: Hepatic ectopic pregnancy is an extremely rare ectopic pregnancy. This study aimed to report a case of primary hepatic pregnancy in a patient with polycystic syndrome.

Patient Concerns: A 30-year-old woman presented with vaginal bleeding after 63 days of amenorrhea. Read More

Horm Metab Res 2020 Mar 25;52(3):186-193. Epub 2020 Mar 25.

Department of Medicine, Ribeirao Preto Medical School, University of Sao Paulo, Brazil.

17-Hydroxylase-deficiency (17OHD) is a rare form of congenital adrenal hyperplasia. The aim of the work was to study clinical, biochemical, and the follow up of 17OHD patients and evaluate the function and structure of mutations. Brazilian patients (three 46, XX and four 46, XY; 17±1. Read More

Iran J Med Sci 2020 Mar;45(2):140-142

Department of Physiology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

Resistant ovary syndrome (ROS) is a presentation of hypergonadotrophic hypogonadism condition with very low incidence. Infertility is one of the most common complaints of women with this syndrome. We herein present a case of a 27-year-old woman with all features of secondary amenorrhea and secondary sexual characteristics. Read More

BMC Med 2020 Mar 24;18(1):72. Epub 2020 Mar 24.

Monash Centre for Health Research and Implementation, School of Public Health and Preventive Medicine, Monash University and Monash Health, Melbourne, VIC, Australia.

Background: Diagnosing polycystic ovary syndrome (PCOS) during adolescence is challenging because features of normal pubertal development overlap with adult diagnostic criteria. The international evidence-based PCOS Guideline aimed to promote accurate and timely diagnosis, to optimise consistent care, and to improve health outcomes for adolescents and women with PCOS.

Methods: International healthcare professionals, evidence synthesis teams and consumers informed the priorities, reviewed published data and synthesised the recommendations for the Guideline. Read More

Reprod Biomed Online 2020 Apr 25;40(4):547-554. Epub 2020 Jan 25.

Department of Obstetrics and Gynecology, Erlangen University Hospital, Friedrich Alexander University of Erlangen-Nuremberg, Erlangen D-91054, Germany.

Research Question: Is ovarian tissue cryopreservation (OTC) for fertility preservation in prepubertal and adolescent girls safe, and who would benefit most from the procedure?

Design: Survey and retrospective study including patients who had OTC under the age of 18 years in a single centre for fertility preservation. Serum anti-Müllerian hormone levels were measured as a marker for detection of diminished ovarian reserve.

Results: Fifty-three from 102 women participated in the survey (12 deceased, 19 declined, 17 unreachable, 1 palliative). Read More

Fertil Steril 2020 Mar;113(3):681-682

Department of Gynecology, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, People's Republic of China. Electronic address:

Objective: To introduce an innovation that combines single port laparoscopic and Wharton-Sheares-George cervicovaginal reconstruction using a small intestinal submucosa (SIS) graft in a patient with congenital cervical atresia, absence of vagina, and incomplete uterine septum (U2aC4V4).

Design: Video article introducing a new surgical technique.

Setting: University hospital. Read More

JBRA Assist Reprod 2020 May 1;24(2):104-114. Epub 2020 May 1.

Novagen. Buenos Aires, Argentina.

Objective: To present the development of the first custom gene panel for the diagnosis of male and female infertility in Latin America.

Methods: We developed a next-generation sequencing (NGS) panel that assesses genes associated with infertility. The panel targeted exons and their flanking regions. Read More

J Clin Endocrinol Metab 2020 May;105(5)

Medical College of Georgia at Augusta University, Section of Reproductive Endocrinology, Infertility, & Genetics, Augusta, Georgia.

Context: We previously reported the first female with a causative ESR1 gene variant, who exhibited absent puberty and high estrogens. At age 15 years, she presented with lower abdominal pain, absent breast development, primary amenorrhea, and multicystic ovaries. The natural history of complete estrogen insensitivity (CEI) in women is unknown. Read More

Endocrinol Diabetes Metab Case Rep 2020 Mar 5;2020. Epub 2020 Mar 5.

Department of Diabetes and Endocrinology, Peterborough City Hospital, Peterborough, UK.

Summary: Hypogonadotropic hypogonadism is characterised by insufficient secretion of pituitary gonadotropins resulting in delayed puberty, anovulation and azoospermia. When hypogonadotropic hypogonadism occurs in the absence of structural or functional lesions of the hypothalamic or pituitary gland, the hypogonadism is defined as idiopathic hypogonadotropic hypogonadism (IHH). This is a rare genetic disorder caused by a defect in the secretion of gonadotropin releasing hormone (GNRH) by the hypothalamus or a defect in the action of GNRH on the pituitary gland. Read More

Taiwan J Obstet Gynecol 2020 Mar;59(2):183-188

Center for Women's Health, University Hospital Professor Edgard Santos, Federal University of Bahia (UFBA), Salvador, Bahia, Brazil; Department of Gynecology and Obstetrics, Faculty of Medicine, Federal University of Bahia (UFBA), Salvador, Bahia, Brazil.

Anomalies in the müllerian ducts are congenital alterations with more prevalence than it is imagined, varying from 0.5 to 6.7% in the general population and up to 16. Read More

Front Med (Lausanne) 2020 7;7:18. Epub 2020 Feb 7.

Department of Gynaecology and Obstetrics, Seventh People's Hospital of Shanghai University of Traditional Chinese Medicine, Shanghai, China.

Primary ovarian insufficiency (POI) is a devastating diagnosis for reproductive-aged women due to the associated infertility and other serious health consequences. Spontaneous pregnancy without hormone replacement therapy (HRT) and/or assisted reproductive technology (ART) rarely occurs in POI patients, particularly in those patients with long-term amenorrhea. On March 4, 2019, a 31-year-old Chinese POI patient visited our hospital for a spontaneous pregnancy after 10 years of amenorrhea and discontinuation of HRT 4 years prior. Read More

J Endocr Soc 2020 Feb 19;4(2):bvz037. Epub 2019 Feb 19.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.

Primary ovarian insufficiency (POI) is characterized by amenorrhea, increased follicle-stimulating hormone (FSH) levels, and hypoestrogenism, leading to infertility before the age of 40 years. Elucidating the cause of POI is a key point for diagnosing and treating affected women. Here, we review the genetic etiology of POI, highlighting new genes identified in the last few years using next-generation sequencing (NGS) approaches. Read More

World Neurosurg 2020 06 17;138:27-34. Epub 2020 Feb 17.

Ochsner Clinic Foundation Department of Neurosurgery, New Orleans, Louisiana, USA.

Background: Xanthomatous hypophysitis (XH) is the rarest histologic type of primary hypophysitis. It is nonlymphocytic and characterized by an infiltration of the pituitary gland by lipid-laden histiocytes and macrophages. The clinical and radiologic features overlap heavily with pituitary adenomas and are prone to misdiagnosis. Read More