Related Experiment Video
Updated: Jan 27, 2026
05:26
Author Spotlight: Oral Candida Diagnosis to Advance Clinical Treatment Regimen for pSS Patients
Published on: March 1, 2024
1.9K
Primary amenorrhoea secondary to two different syndromes: a case study
1National Institute of Diabetes and Endocrinology, Department of Medicine, Dow University of Health Sciences, Karachi, Pakistan.
BMJ Case Reports
|March 18, 2019
Summary
This case highlights an extremely rare presentation of primary amenorrhea caused by both Turner syndrome (X monosomy) and Mayer-Rokitansky-Kuster-Hauser syndrome (Mullerian agenesis) in one patient.
Area of Science:
- Reproductive Endocrinology
- Clinical Genetics
- Gynecology
Background:
- Turner syndrome, a chromosomal abnormality due to X monosomy, is a common cause of primary amenorrhea.
- Mayer-Rokitansky-Kuster-Hauser syndrome, characterized by Mullerian agenesis, is another frequent cause of primary amenorrhea.
Observation:
- An 18-year-old female presented with primary amenorrhea, absent secondary sexual characteristics, and short stature.
- Hormonal evaluation revealed hypergonadotropic hypogonadism.
- Karyotyping confirmed Turner syndrome (45,XO), and pelvic imaging showed absence of ovaries, uterus, cervix, and vagina.
Findings:
- The patient exhibited a rare co-occurrence of Turner syndrome and Mayer-Rokitansky-Kuster-Hauser syndrome.
- This dual diagnosis accounts for the primary amenorrhea and associated physical characteristics.
Implications:
- This case underscores the importance of comprehensive evaluation in primary amenorrhea.
- While hormone replacement can address some symptoms, fertility and menstruation induction are not possible in such cases.
Related Concept Videos
03:02Primary and Secondary Growth in Roots and Shoots
60.4K
Vascular plants, which account for over 90% of the Earth’s vegetation, all undergo primary growth—which lengthens roots and shoots. Many land plants, notably woody plants, also undergo secondary growth—which thickens roots and shoots.
60.4K
01:23Primary and Secondary Reinforcers
920
In psychology, reinforcement is a key concept in behavior modification. B.F. Skinner demonstrated this with his experiments involving rats in what is known as a Skinner box. The rats learned to press a lever to receive food, a primary reinforcer that fulfilled their innate need for nourishment.
Effective reinforcers for humans vary depending on the individual and the context. Primary reinforcers, such as food, water, sleep, shelter, and pleasure, have inherent value and satisfy basic biological...
Effective reinforcers for humans vary depending on the individual and the context. Primary reinforcers, such as food, water, sleep, shelter, and pleasure, have inherent value and satisfy basic biological...
920
01:55Secondary Active Transport
137.7K
One example of how cells use the energy contained in electrochemical gradients is demonstrated by glucose transport into cells. The ion vital to this process is sodium (Na+), which is typically present in higher concentrations extracellularly than in the cytosol. Such a concentration difference is due, in part, to the action of an enzyme “pump” embedded in the cellular membrane that actively expels Na+ from a cell. Importantly, as this pump contributes to the high concentration of...
137.7K
01:32Secondary Active Transport
9.5K
One example of how cells use the energy contained in electrochemical gradients is demonstrated by glucose transport into cells. The ion vital to this process is sodium (Na+), which is typically present in higher concentrations extracellularly than in the cytosol. Such a concentration difference is due, in part, to the action of an enzyme "pump" embedded in the cellular membrane that actively expels Na+ from a cell. Importantly, as this pump contributes to the high concentration of...
9.5K
01:30Acute Coronary Syndrome III: Diagnostic Studies
249
Diagnosing acute coronary syndrome or ACS begins with a thorough patient history. Notable symptoms include central, crushing chest pain radiating to the left arm, neck, jaw, or back, along with shortness of breath, sweating (diaphoresis), nausea, vomiting, dizziness, and palpitations.It is crucial to note any history of cardiac illnesses and assess risk factors, including age, gender, smoking, hypertension, diabetes, hyperlipidemia, and a sedentary lifestyle.During physical examination, vital...
249
01:11Secondary Healthcare System
2.0K
Secondary healthcare is offered by a specialist, generally in hospitals or clinics for patients referred by primary healthcare providers. It occurs when a person has an illness or injury that requires specific medical care. Secondary care is often referred to as acute care. Secondary care can range from uncomplicated care to repair a minor laceration or treat a strep throat infection to more complicated emergent care, such as treating a head injury sustained in an automobile accident. Whatever...
2.0K