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46,XX ovarian dysgenesis-short stature syndrome

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Description

A rare, genetic disorder of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype.

ORDO

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

5

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Genes

External Links

  • OMIM

    616185

  • Orphanet

    444048

  • HPO
  • Medgen

    C4015409

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