XX gonadal dysgenesis
| XX gonadal dysgenesis | |
|---|---|
| Other names | XX ovarian dysgenesis, Perrault syndrome |
| Ovary (left) and streak gonad (right). | |
| Specialty | Medical genetics |
XX gonadal dysgenesis is a type of female hypogonadism in which the ovaries do not function to induce puberty in an otherwise normal girl, whose karyotype is 46,XX.[1] Individuals with XX gonadal dysgenesis have normal-appearing external genitalia as well as Müllerian structures (e.g., cervix, vagina, uterus). Due to the nearly absent or nonfunctional streak ovaries (under-developed ovaries that are then small and fibrous tissue, hence the term "streak"),[2] the individual is low in estrogen levels (hypoestrogenic) and has high levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH), hormones that cycle in the reproductive system.[3] As a result, the diagnosis often occurs after a concern for delayed puberty or amenorrhea. Treatment generally involves hormone replacement therapy with estrogen and progesterone.[4]
- ^ Stafford, Diane E. J. (2023-01-01), "Disorders of puberty", in Halpern-Felsher, Bonnie (ed.), Encyclopedia of Child and Adolescent Health (First Edition), Oxford: Academic Press, pp. 759–779, ISBN 978-0-12-818873-6, retrieved 2024-11-24
- ^ Nistal, Manuel; Paniagua, Ricardo; González-Peramato, Pilar; Reyes-Múgica, Miguel (2015). "Perspectives in Pediatric Pathology, Chapter 5. Gonadal Dysgenesis". Pediatric and Developmental Pathology. 18 (4): 259–278. doi:10.2350/14-04-1471-PB.1. ISSN 1093-5266. PMID 25105336.
- ^ Thompson, Shelby; Wherrett, Diane (2025). "Disorders of Sex Development". Fanaroff and Martin's Neonatal-Perinatal Medicine (12th ed.). Philadelphia, PA: Elsevier. pp. 1750–1789. ISBN 978-0-323-93266-0.
- ^ Netter, Frank (2025). "Ovaries". Netter Collection of Medical Illustrations: Reprodctive System (3rd ed.). Philadelphia, PA: Elsevier. pp. 197–226. ISBN 978-0-323-88083-1.