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Gonadal hypoplasia
- ... of features is a condition called 46,XY gonadal dysgenesis with minifascicular neuropathy. The nerve abnormalities affect nerves connecting the brain and spinal cord ...
- ... MT. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest. ...
- ... disorder of sex development, also known as partial gonadal dysgenesis. Affected individuals may have external genitalia that do not look clearly male-typical or clearly female-typical or other abnormalities of the genitals and reproductive organs. Affected individuals ...
- ... the brain (the hypothalamus and pituitary), and the gonads (ovaries in females and testes in ... X-linked adrenal hypoplasia congenita. This condition affects the development of the ...
- ... sex development, which is also known as partial gonadal dysgenesis. These variants likely ... M3K1_HUMAN ...
- ... necessary for the development of the kidneys and gonads (ovaries in females and testes in males) before ... of this gene is responsible for the genitourinary abnormalities and the increased risk of Wilms tumor in ...
- ... first year of life; its major features include abnormalities of the reproductive system in males, breathing problems, ... reproductive system and the brain, including the brainstem. Abnormalities of brainstem function, particularly involving breathing and heart ...
- ... processes that cause a fetus to develop male gonads (testes) and prevent the development of female reproductive ... Swyer syndrome, also known as 46,XY complete gonadal dysgenesis or 46,XY pure gonadal dysgenesis. Swyer ...
- ... ClinVar Bernard P, Harley VR. Wnt4 action in gonadal development and sex determination. Int J Biochem Cell ... adolescent girls with primary amenorrhea and mullerian duct abnormalities: a French collaborative study. J Clin Endocrinol Metab. ...
- ... 3. This enzyme is active in the male gonads (testes), where it helps to produce the male ... tract in the male fetus, resulting in the abnormalities in the external sex organs that occur in ...