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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 ...
- ... than in affected females. The most common genitourinary abnormality in affected males is undescended testes (cryptorchidism). Affected females may not have functional ovaries and may instead have undeveloped clumps of tissue called streak gonads. Females with WAGR syndrome may also have a ...
- ... not show signs and symptoms of the condition. Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance Gonadal ...
- ... disorder that affects hormone-producing glands including the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty. ...
- ... function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty ...
- ... syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development. J Pediatr. 2004 Feb; ...