The genetics of ovotesticular differences of sex development

Vilain, Éric

doi:10.1016/b978-0-12-821424-4.00004-6

Cited by 1 publication

(1 citation statement)

References 22 publications

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“…It requires the concomitant existence of testicular tissue (seminiferous tubules) and ovarian tissue (follicles containing oocytes) that can be found in each of the two gonads (bilateral ovotestis), just in one of the two gonads (unilateral ovotestis) with the other one normally differentiated as testis or ovary, or one testis in one side and ovary on the other (lateral ovotestis). The most common for is the unilateral (ovotestis/ovary) in 34% of cases, followed by bilateral ovotestis in 29% of cases, lateral (ovary/testis) in 25% of cases and unilateral (ovotestis/testis) in 12% of cases ( 71 ).…”

Section: XX Differences Of Sex Developmentmentioning

confidence: 99%

46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes

Stancampiano,

Meroni,

Bucolo

et al. 2024

Front. Endocrinol.

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The term ‘differences of sex development’ (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal, gonadal, and/or anatomical sex. DSD in individuals with a 46,XX karyotype can occur due to fetal or postnatal exposure to elevated amount of androgens or maldevelopment of internal genitalia. Clinical phenotype could be quite variable and for this reason these conditions could be diagnosed at birth, in newborns with atypical genitalia, but also even later in life, due to progressive virilization during adolescence, or pubertal delay. Understand the physiological development and the molecular bases of gonadal and adrenal structures is crucial to determine the diagnosis and best management and treatment for these patients. The most common cause of DSD in 46,XX newborns is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, determining primary adrenal insufficiency and androgen excess. In this review we will focus on the other rare causes of 46,XX DSD, outside CAH, summarizing the most relevant data on genetic, clinical aspects, puberty and fertility outcomes of these rare diseases.

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Section: XX Differences Of Sex Developmentmentioning

confidence: 99%