Aromatase deficiency
Aromatase deficiency is a very rare condition characterised by the extremely low or absence of the enzyme aromatase activity in the body. It is an autosomal recessive disease resulted from various mutations of gene CPY19 (P450arom) which can lead to delayed puberty in females, osteoporosis in males and virilisation in pregnant mothers. As of 2016, only 35 cases have been described in medical literature.
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Androgen insensitivity syndromeAromatase deficiency syndromeAromatase excess syndromeBreast developmentCongenital estrogen deficiencyCytochrome P450 oxidoreductase deficiencyDelayed pubertyDisorders of sex developmentEstrogenEstrogen insensitivity syndromeEstrogen receptorFollicle-stimulating hormone insensitivityHyperestrogenismHyperpigmentationHypoestrogenismInborn errors of steroid metabolismIntersexList of OMIM disorder codesList of diseases (A)MacroorchidismRAR-related orphan receptor alphaSexual motivation and hormones
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Aromatase deficiency
Aromatase deficiency is a very rare condition characterised by the extremely low or absence of the enzyme aromatase activity in the body. It is an autosomal recessive disease resulted from various mutations of gene CPY19 (P450arom) which can lead to delayed puberty in females, osteoporosis in males and virilisation in pregnant mothers. As of 2016, only 35 cases have been described in medical literature.
has abstract
Aromatase deficiency is a very ...... scribed in medical literature.
@en
Das Aromatase-Exzess-Syndrom i ...... rtäre Gynäkomastie, hereditäre
@de
Der Aromatase-Mangel ist eine ...... urch D. Mango und Mitarbeiter.
@de
Le syndrome d'excès d'aromatas ...... es symptômes de cette maladie.
@fr
Дефицит ароматазы — очень редк ...... ыло описано только 35 случаев.
@ru
Синдром избытка ароматазы — ре ...... 15 и 7 семей, соответственно.
@ru
متلازمة فرط الأروماتاز (بالانج ...... على التوالي في المنشور العلمي.
@ar
نقص الأروماتاز (بالانجليزية:Ar ...... غير مناسب في الأم أثناء الحمل.
@ar
방향화효소 과다 증후군(Aromatase excess ...... 함될 정도로 남성 생식기의 여성화가 일어나지는 않는다.
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complications
Virilisation, tall stature,primary amenorrhea,multicystic ovaries,
DiseasesDB
ICD10
OMIM id
treatment
Wikipage page ID
21,631,187
page length (characters) of wiki page
Wikipage revision ID
1,012,842,575
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caption
AES results when the function ...... oestradiol in the human body.
@en
causes
Genetic mutations of CPY19
@en
complications
Virilisation, tall stature, primary amenorrhea, multicystic ovaries,
@en
diagnosis
Extremely low level of oestrogen and elevated level of androgens
@en
DiseasesDB
duration
Lifetime
@en
field
ICD
E25.8
@en
name
Aromatase deficiency
@en
OMIM
onset
Adulthood
@en
Orphanet
synonyms
Congenital estrogen deficiency
@en
treatment
Transdermal oestradiol replacement, hormone replacement therapy
@en
types
Endocrine Disruptive Disorder
@en
wikiPageUsesTemplate
subject
hypernym
comment
Aromatase deficiency is a very ...... scribed in medical literature.
@en
Das Aromatase-Exzess-Syndrom i ...... rtäre Gynäkomastie, hereditäre
@de
Der Aromatase-Mangel ist eine ...... urch D. Mango und Mitarbeiter.
@de
Le syndrome d'excès d'aromatas ...... une forme d'intersexuation ; e
@fr
Дефицит ароматазы — очень редк ...... ыло описано только 35 случаев.
@ru
Синдром избытка ароматазы — ре ...... 15 и 7 семей, соответственно.
@ru
متلازمة فرط الأروماتاز (بالانج ...... على التوالي في المنشور العلمي.
@ar
نقص الأروماتاز (بالانجليزية:Ar ...... غير مناسب في الأم أثناء الحمل.
@ar
방향화효소 과다 증후군(Aromatase excess ...... 함될 정도로 남성 생식기의 여성화가 일어나지는 않는다.
@ko
label
Aromatase deficiency
@en
Aromatase-Exzess-Syndrom
@de
Aromatase-Mangel
@de
Syndrome d'excès d'aromatase
@fr
Дефицит ароматазы
@ru
Синдром избытка ароматазы
@ru
متلازمة فرط الأروماتاز
@ar
نقص الأروماتاز
@ar
방향화효소 과다 증후군
@ko
sameAs
wasDerivedFrom
isPrimaryTopicOf
name
Aromatase deficiency
@en