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Results 1 - 10 of 38 for Gonadal hypoplasia
  1. DHH gene 
    ... of features is a condition called 46,XY gonadal dysgenesis with minifascicular neuropathy. The nerve abnormalities affect nerves connecting the brain and spinal cord ...
    https://medlineplus.gov/genetics/gene/dhh - Genetics
  2. SOX2 gene 
    ... MT. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest. ...
    https://medlineplus.gov/genetics/gene/sox2 - Genetics
  3. NR5A1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/nr5a1 - Genetics
  4. NR0B1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/nr0b1 - Genetics
  5. How Do Health Care Providers Diagnose Precocious Puberty and Delayed Puberty? From the National Institutes of Health (Eunice Kennedy Shriver National Institute of Child Health and Human Development)  
    Puberty/Diagnosis and Tests ... Puberty ... Eunice Kennedy Shriver National Institute of Child Health and Human Development ... From the National Institutes of Health
    https://www.nichd.nih.gov/.../topics/puberty/conditioninfo/diagnosed - External Health Links
  6. MAP3K1 gene 
    ... sex development, which is also known as partial gonadal dysgenesis. These variants likely ... M3K1_HUMAN ...
    https://medlineplus.gov/genetics/gene/map3k1 - Genetics
  7. WAGR syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/wagr-syndrome - Genetics
  8. Perrault syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  9. 3-beta-hydroxysteroid dehydrogenase deficiency 
    ... 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. ...
    https://medlineplus.gov/...a-hydroxysteroid-dehydrogenase-deficiency - Genetics
  10. 17 alpha-hydroxylase/17,20-lyase deficiency 
    ... 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 ...
    https://medlineplus.gov/...-alpha-hydroxylase-17-20-lyase-deficiency - Genetics
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