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Aromatase Deficiency
Congenital Estrogen Deficiency

Presentation

Only one trial presented adverse events in detail; however, all included trials presented safety data. [cochranelibrary.com]

Entire Body System

  • Weight Gain

    In addition, they can have excessive weight gain and a fatty liver. Women who are pregnant with fetuses that have aromatase deficiency often experience mild symptoms of the disorder even though they themselves do not have the disorder. [medlineplus.gov]

  • Tall Stature

    Both were described as having tall stature (adult height up to 204 cm) and unfused epiphyses despite normal pubertal development. [cochranelibrary.com]

Skin

  • No Pubic Hair

    Both used prepubertal Tanner pubic hair or genital stage at an age plus two SDs from the mean of the reference population. [cochranelibrary.com]

Urogenital

  • Clitoromegaly

    These women may develop hirsutism, acne, an enlarged clitoris (clitoromegaly), and a deep voice. These features can appear as early as 12 weeks of pregnancy and go away soon after delivery. [medlineplus.gov]

Treatment

The duration of treatment ranged from 12 to 36 months, with a mean treatment duration of 24 months. [cochranelibrary.com]

Effect of anastrozole and tamoxifen as adjuvant treatment for early-stage breast cancer: 10 year analysis of the ATAC trial. Lancet Oncol. 2010;11(12):1135-41. [ Links ] 2. [scielo.isciii.es]

Prognosis

Studies indicated that final adult height is increased with early therapy, thus the earlier the diagnosis, the better the prognosis for height. Nonetheless, most children treated with GH remain short when compared to their peers of normal stature. [cochranelibrary.com]

Prevention

This conversion in the placenta prevents androgens from directing sexual development in female fetuses. After birth, the conversion of androgens to estrogens takes place in multiple tissues. [medlineplus.gov]

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