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 found to be 46,XX. With nonfunctional streak ovaries, she is low in estrogen levels (hypoestrogenic) and has high levels of FSH and LH. Estrogen and progesterone therapy is usually then commenced. Some cases are considered a severe version of premature ovarian failure where the ovaries fail before puberty.[1]
Some forms of XX gonadal dysgenesis occurs with sensorineural deafness. This type is also known as Perrault syndrome, an autosomal recessive disease affecting both sexes. Males present only with the deafness.[2]
The term "pure gonadal dysgenesis" (PGD) has been used to distinguish a group of patients from gonadal dysgenesis related to Turner syndrome. In the latter a distinct chromosomal aberration is present, while in PGD the chromosomal constellation is either 46,XX or 46,XY. Thus XX gonadal dysgenesis is also referred to as PGD, 46 XX, and XY gonadal dysgenesis as PGD, 46,XY or Swyer syndrome.[3] Patients with PGD have a normal chromosomal constellation but may have localized genetic alterations.
^Ledig, S; Röpke, A; Wieacker, P (September 2010). "Copy number variants in premature ovarian failure and ovarian dysgenesis". Sexual Development. 4 (4–5): 225–32. doi:10.1159/000314958. PMID 20606390. S2CID 20694337.
^Sampathkumar, G.; Veerasigamani, N. (2015). "Perrault syndrome — a rare case report". Journal of Clinical and Diagnostic Research. 9 (3): OD01-2. doi:10.7860/JCDR/2015/10992.5641. PMC 4413102. PMID 25954653.
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XY complete gonadaldysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically...
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hypogonadism (HH), also known as primary or peripheral/gonadal hypogonadism or primary gonadal failure, is a condition which is characterized by hypogonadism...
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JC, Briggs JH (April 1959). "A sex-chromosome anomaly in a case of gonadaldysgenesis (Turner's syndrome)". Lancet. 1 (7075): 711–713. doi:10.1016/S0140-6736(59)91893-8...
development. It is much more common than having no functional ovaries (XXgonadaldysgenesis). Based on two cases reported at a Malaysian institution that performed...
such as Turner syndrome (most common cause in girls), XXgonadaldysgenesis, and XY gonadaldysgenesis, problems in the ovarian hormone synthesis pathway...
congenitally absent. It may refer to: Unilateral ovarian agenesis XXgonadaldysgenesisGonadaldysgenesis This disambiguation page lists articles associated with...
Commonly, one or both gonads is an ovotestis containing both types of tissue. Although it is similar in some ways to mixed gonadaldysgenesis, the conditions...
tubes, along with gonadal defects rendering them nonfunctional. NR5A1 mutations have also been linked to partial gonadaldysgenesis, whereby affected...
is a gonad with both testicular and ovarian aspects. In humans, ovotestes are an infrequent anatomical variation associated with gonadaldysgenesis. The...
BRIGGS, JH (Apr 4, 1959). "A sex-chromosome anomaly in a case of gonadaldysgenesis (Turner's syndrome)". Lancet. 1 (7075): 711–3. doi:10.1016/S0140-6736(59)91893-8...
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