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Aromatase deficiency

MONDO:0013301

Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.

Also known as: aromatase deficiency, congenital estrogen deficiency, congenital oestrogen deficiency, pseudohermaphroditism, female, due to placental aromatase deficiency

5 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Infertility disorder (336) Pregnancy disorder (292) Hereditary disease (176) Female infertility (100) Endocrine system disorder (72) Primary ovarian failure (48) Female reproductive system disorder (27) Ovarian dysfunction (26) Hereditary endocrine growth disease (24)
Trials to join now! 1 Not yet recruiting 1 Not yet finished but already full! 1 Completed 2
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  • New biobank aims to unlock secrets of infertility and pregnancy

    Knowledge-focused ENROLLING_BY_INVITATION

    This study is creating a biobank—a collection of blood samples and health data—to help researchers better understand gynecological disorders, infertility in men and women, and pregnancy-related conditions. Up to 3,000 participants will provide samples at San Raffaele Hospital in …

    Sponsor: IRCCS San Raffaele • Aim: Knowledge-focused

    Last updated Jun 27, 2026 08:01 UTC

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