pelvic examination (checking for maturation of external internal genitals), general examination (looking for secondary sexual characters), chromosome karyotyping, hormone levels like FSH, LH (which are increased in case of purely XX dysgenesis), family history
[1]Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system characterized by a progressive loss of primordial germ cells on the developing gonads of an embryo.[2] One type of gonadal dysgenesis is the development of functionless, fibrous tissue, termed streak gonads, instead of reproductive tissue.[3] Streak gonads are a form of aplasia, resulting in hormonal failure that manifests as sexual infantism and infertility, with no initiation of puberty and secondary sex characteristics.[4]
Gonadal development is a process, which is primarily controlled genetically by the chromosomal sex (XX or XY), which directs the formation of the gonad (ovary or testicle).[4]
Differentiation of the gonads requires a tightly regulated cascade of genetic, molecular and morphogenic events.[5]
At the formation of the developed gonad, steroid production influences local and distant receptors for continued morphological and biochemical changes.[5]
This results in the phenotype corresponding to the karyotype (46,XX for females and 46,XY for males).[5]
Gonadal dysgenesis arises from a difference in signalling in this tightly regulated process during early foetal development.[6][7]
Manifestations of gonadal dysgenesis are dependent on the aetiology and severity of the underlying causes.[7]
^Carreau S, Lejeune H (2001). "Andrology: Male Reproductive Health and Dysfunction". Andrologie. 11 (2): 95–97. doi:10.1007/BF03034401.
^Hughes I (2008). "The Testes: Disorders of Sexual Differentiation and Puberty in the Male". Pediatric Endocrinology. Vol. 135. Elsevier Health Sciences. pp. 662–685. doi:10.1016/B978-1-4160-4090-3.X5001-7. ISBN 9781416040903. PMC 1491552. {{cite book}}: |journal= ignored (help)
^"Gonadal Streak. Farlex Partner Medical Dictionary".
^ abBalsamo A, Buonocore G, Bracci R, Weindling M (2012). "Disorders of Sexual Development". Neonatology. Springer.
^ abcPieretti RV, Donahoe PK (2018). "Pathogenesis and Treatment of Disorders of Sexual Development". Endocrine Surgery in Children. Springer. pp. 241–270. doi:10.1007/978-3-662-54256-9_18. ISBN 978-3-662-54254-5.
^Boizet-Bonhoure B (2015). "Development and Pathology of the Gonad". Seminars in Cell & Developmental Biology. 45: 57–58. doi:10.1016/j.semcdb.2015.11.009. PMID 26653403.
^ abJorgensen A, Johansen M, Juul A, Skakkebaek N, Main K, Rajpert-De Meyts E (2015). "Pathogenesis of germ cell neoplasia in testicular dysgenesis and disorders of sex development". Seminars in Cell & Developmental Biology. 45: 124–137. doi:10.1016/j.semcdb.2015.09.013. PMID 26410164.
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