Primary Amenorrhea and Differences of Sex Development.
Sign Up to like & getrecommendations! Published in 2022 at "Seminars in reproductive medicine"
DOI: 10.1055/s-0042-1753551
Abstract: Primary amenorrhea may be a feature or a presenting sign of a difference of sex development, most often due to a congenital anatomic difference or hypergonadotropic hypogonadism. History and physical exam are very important, including… read more here.
Keywords: amenorrhea differences; development; primary amenorrhea; sex development ... See more keywords
A novel variant in LCHGR gene in 3 siblings with type 1 Leydig cell hypoplasia
Sign Up to like & getrecommendations! Published in 2020 at "Gynecological Endocrinology"
DOI: 10.1080/09513590.2020.1789859
Abstract: Abstract Introduction Leydig cell hypoplasia (LCH) is an autosomal recessive disease that causes 46, XY sex development disorder. The patients with LCH are usually in the female phenotype and are presented with the complaints of… read more here.
Keywords: leydig cell; primary amenorrhea; novel variant; female phenotype ... See more keywords
Insulin-like growth factor-1 deficiency caused by hepatocellular adenoma leads to growth arrest, primary amenorrhea and metabolic syndrome: a case report and 4 years follow up
Sign Up to like & getrecommendations! Published in 2024 at "BMC Endocrine Disorders"
DOI: 10.1186/s12902-024-01716-z
Abstract: Hepatocellular adenoma (HCA) is a rare benign neoplasm, seldom ascribed as the cause of endocrine and metabolic derangement. We herein report a case of primary amenorrhea, growth arrest and metabolic syndrome. En bloc resection of… read more here.
Keywords: hepatocellular adenoma; primary amenorrhea; growth; growth arrest ... See more keywords
Diagnosis and management of of primary amenorrhea and female delayed puberty.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of endocrinology"
DOI: 10.1530/eje-20-1487
Abstract: Puberty is the period of transition from childhood to adulthood characterized by the attainment of adult height and body composition, accrual of bone strength and the acquisition of secondary sexual characteristics, psychosocial maturation and reproductive… read more here.
Keywords: puberty; amenorrhea female; management primary; primary amenorrhea ... See more keywords
PRIMARY AMENORRHEA IN KABUKI SYNDROME: A CASE REPORT
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DOI: 10.16965/ijar.2018.192
Abstract: Address for Correspondence: Dr Sarah Ramamurthy, Assistant Professor, Department of Anatomy, Pondicherry Institute of Medical Sciences, Kalapet, Pondicherry, India. Phone:9962267590 E-Mail: [email protected] Kabuki syndrome also called as Niikawa Kuroki syndrome is a paediatric congenital disorder… read more here.
Keywords: kabuki syndrome; primary amenorrhea; amenorrhea kabuki; syndrome case ... See more keywords
Etiology and Secular Trends in Primary Amenorrhea in 856 Patients: A 17-Year Retrospective Multicenter Study in Korea
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Korean Medical Science"
DOI: 10.3346/jkms.2022.37.e230
Abstract: Background This study was performed to evaluate etiologies and secular trends in primary amenorrhea in South Korea. Methods This retrospective multi-center study analyzed 856 women who were diagnosed with primary amenorrhea between 2000 and 2016.… read more here.
Keywords: secular trends; etiology secular; primary amenorrhea; trends primary ... See more keywords
Primary Amenorrhea with Mayer-Rokitansky-Kuster-Hauser Syndrome
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DOI: 10.3889/oamjms.2021.6306
Abstract: BACKGROUND: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare disorder described as aplasia or hypoplasia of uterus and vagina due to an early arrest in the development of Mullerian ducts. The etiology of MRKH syndrome remains uncertain:… read more here.
Keywords: mayer rokitansky; mrkh syndrome; primary amenorrhea; kuster hauser ... See more keywords
Primary amenorrhea in females attending gynaecological outpatient of a tertiary care hospital at Peshawar.
Sign Up to like & getrecommendations! Published in 2020 at "JPMA. The Journal of the Pakistan Medical Association"
DOI: 10.5455/jpma.24317
Abstract: 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… read more here.
Keywords: primary amenorrhea; hospital peshawar; amenorrhea females; found patients ... See more keywords
A highly rare female phenotype with complex chromosomal mosaicism: 46,XY/45,X/46,X,r(Y).
Sign Up to like & getrecommendations! Published in 2025 at "Clinical and experimental reproductive medicine"
DOI: 10.5653/cerm.2025.08011
Abstract: Objective Mixed gonadal dysgenesis is characterized by abnormal genital appearance and chromosomal mosaicism. A wide spectrum of clinical manifestations can occur, ranging from females (with or without Turner syndrome) to phenotypically normal males with some… read more here.
Keywords: rare female; mosaicism; primary amenorrhea; chromosomal mosaicism ... See more keywords