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Results 1 - 10 of 14 for Gonadal hypoplasia
  1. 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
  2. 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
  3. 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
  4. 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
  5. Turner syndrome 
    ... swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One-third to one-half ... leaves the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta to ...
    https://medlineplus.gov/genetics/condition/turner-syndrome - Genetics
  6. Sudden infant death with dysgenesis of the testes syndrome 
    ... first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, ... the brain and the voicebox (larynx).The brainstem abnormalities lead to death in the first year of ...
    https://medlineplus.gov/...th-with-dysgenesis-of-the-testes-syndrome - Genetics
  7. X-linked adrenal hypoplasia congenita 
    ... in the NR0B1 gene cause X-linked adrenal hypoplasia congenita. The NR0B1 ... pituitary), and the gonads (ovaries in females and testes in males). The ...
    https://medlineplus.gov/.../x-linked-adrenal-hypoplasia-congenita - Genetics
  8. Hartsfield syndrome 
    ... two siblings with Hartsfield syndrome: a case of gonadal mosaicism. Am J Med Genet A. 2014 Sep; ... X, Babovic-Vuksanovic D, Spector E. Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing. ...
    https://medlineplus.gov/genetics/condition/hartsfield-syndrome - Genetics
  9. IMAGe syndrome 
    ... syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development. J Pediatr. 2004 Feb; ...
    https://medlineplus.gov/genetics/condition/image-syndrome - Genetics
  10. Müllerian aplasia and hyperandrogenism 
    ... PubMed Bernard P, Harley VR. Wnt4 action in gonadal development and sex determination. Int J Biochem Cell ... gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Kuster-Hauser syndrome). ...
    https://medlineplus.gov/.../mullerian-aplasia-and-hyperandrogenism - Genetics
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