A case of primary amenorrhea with 46+XY genotype from Kashmir Valley.

Indian J Hum Genet

Department of Immunology and Molecular Medicine, Sher-i-Kashmir Institute of Medical Sciences, Soura, Srinagar, Kashmir, India.

Published: July 2013

Primary amenorrhea is one of the common reproductive disorder affecting females. It leads to the absence of menarche in the reproductive age group in females and/or complete absence of reproductive organs. There are many causes which lead to PA, including genetic aberrations which are the leading factors.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841567PMC
http://dx.doi.org/10.4103/0971-6866.120816DOI Listing

Publication Analysis

Top Keywords

primary amenorrhea
8
case primary
4
amenorrhea 46+xy
4
46+xy genotype
4
genotype kashmir
4
kashmir valley
4
valley primary
4
amenorrhea common
4
common reproductive
4
reproductive disorder
4

Similar Publications

Douglas abscesses (DA) involving the ovaries and/or fallopian tubes and tubo-ovarian abscesses (TOA) constitute a very rare finding in virginal females. Underlying conditions are suspected to play a role in their development; often however, the exact pathomechanism remains hypothetical or unknown. We report the case of a 19-year-old virginal female who was referred to our outpatient clinic for further clarification of a 6-month ongoing secondary amenorrhea.

View Article and Find Full Text PDF

Introduction And Importance: Acute urinary retention (AUR) is uncommon in pediatric and adolescent populations, particularly among females. To highlight the presentation of AUR as a symptom of hematocolpos due to an imperforate hymen in a 15-year-old girl.

Case Presentation: A 15-year-old girl presented with AUR and lower abdominal pain, which led to the diagnosis of hematocolpos.

View Article and Find Full Text PDF

This case report highlights the clinical complexity of Bardet-Biedl syndrome, a rare autosomal recessive disorder, emphasizing reproductive anomalies to aid in diagnosis and management. It underscores the importance of thorough assessment and advocates for genetic testing to optimize care, despite current financial, and laboratory constraints.

View Article and Find Full Text PDF

Background/objective: 4H syndrome is a rare form of leukodystrophy characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. In 95% of cases, hypomyelination is present, but other clinical features, such as hypodontia and hypogonadotropic hypogonadism, are not always present and may not be necessary for diagnosis. Hypogonadotropic hypogonadism is the most common endocrine complication that can occur in 4H syndrome.

View Article and Find Full Text PDF

Introduction: Unintended pregnancy is a global public health challenge. Many contraceptive methods are available to end users, but non-use and discontinuation due to health concerns or side effects, particularly related to unpredictable or undesirable menstrual bleeding, are common. Oral contraceptive pills (OCPs) often have regular bleeding patterns compared to other hormonal contraceptives but require daily adherence.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!