Related Experiment Video
Updated: Jul 7, 2026
05:26
Examination of Oral Candida Infection in Primary Sjögren's Syndrome Patients
Published on: March 1, 2024
[Swyer syndrome: report of 5 cases]
R Ben Temime1, A Chechia, L Attia
1Service de gynécologie obstétrique A, hôpital Charles-Nicolle, 1006 Tunis, Tunisie. temime_r@yahoo.fr
Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction
|February 5, 2008
Summary
Swyer's syndrome, a 46 XY disorder, affects phenotypic females with abnormal testicular development. Early gonad removal is crucial due to a high risk of gonadal cancer.
Area of Science:
- Endocrinology
- Genetics
- Reproductive Medicine
Background:
- Swyer's syndrome is a rare disorder characterized by a 46 XY karyotype in individuals with a female phenotype.
- It represents a form of pure gonadal dysgenesis with abnormal embryonic testicular differentiation and regression.
Observation:
- This study details five phenotypic female patients with XY karyotype and gonadal dysgenesis.
- Patients presented with primary amenorrhea, underdeveloped secondary sexual characteristics, and female external genitalia.
Findings:
- Elevated Follicle-Stimulating Hormone (FSH) levels were observed (mean 80.5).
- Surgical findings included streak fibrous gonads, with two cases of gonadoblastoma and one of dysgerminoma in a 13-year-old.
- The mean age of the patients was 17.6 years.
Implications:
- The high incidence of gonadal neoplasia in Swyer's syndrome necessitates prompt prophylactic gonadectomy.
- Early diagnosis and management are critical for these patients.
Related Concept Videos
01:43Sex Linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
01:26Cushing Syndrome I: Introduction
Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
01:19Cushing Syndrome II: Pathophysiology
Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
01:08Prevalence and Incidence
In statistical epidemiology and health sciences, two essential metrics—prevalence and incidence—are fundamental for understanding disease dynamics within a population. These measures enable public health officials, epidemiologists, and researchers to assess the burden of diseases, allocate resources effectively, and design impactful public health policies and interventions.
Prevalence indicates the proportion of individuals in a population who have a specific disease or health condition at a...
Prevalence indicates the proportion of individuals in a population who have a specific disease or health condition at a...
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...