Aromatase deficiency
[2] It is an autosomal recessive disease resulting from various mutations of gene CYP19 (P450arom) which can lead to ambiguous genitalia and delayed puberty in females, continued linear growth into adulthood and osteoporosis in males and virilization in pregnant mothers.The taller than expected height occurs because estrogen normally causes fusion of the epiphyseal growth plates in the bones, and in its absence, the patient will keep growing longer.The amount of androgen will accumulate at a very high rate in the blood, disrupting the LHRH-LH/FSH axis that can potentially lead to polycystic ovaries in adulthood.[11] While females begin to virilise and grow hair in various places during adolescent, they are unable to menstruate without the presence of estradiol, subsequently causing primary amenorrhea, clitormegaly, and absence of breast development.[2] Elevated level of androgens do not contribute to harmonic skeletal muscle growth like estrogen, thus, patients exhibits eunuchoid body habitus.[4] The condition can be suspected for males in their late teenage years or twenties who have continued linear growth and bone pain.[5] In males, transdermal estradiol replacement enable epiphyseal plates closure, increases bone density, promote skeletal maturation, lower FSH and LH level to normal and decrease insulin blood concentration.
SpecialtyEndocrinologyComplicationsVirilisationprimary amenorrheamulticystic ovariesDiagnostic methodhormone replacement therapyaromataseautosomaldelayed pubertyosteoporosisvirilizationestrogenepiphyseal growth platespolycystic ovariesclitoromegalyHyperandrogenismPrader scaleassigned male at birthamenorrheahypergonadotropic hypogonadismosteopeniaType II DiabeteshyperinsulinemiacliteromegalyhirsutismestroneestradiolAndrostenedioneTestosteroneplacentaintermediatesbiosynthesisphallusTranscriptionintronCysteineArgininePoint mutationValineMethionineAmino AcidsMissense mutationPhenylalanineCYP19A1LeucineProlineGlutamineGlutamic acidTyrosinecongenital adrenal hyperplasiaandrogensepiphyseal platesAromatase excess syndromeCongenital estrogen deficiencyDisorders of sex developmentEstrogen insensitivity syndromeInborn errors of steroid metabolismCytochrome P450 oxidoreductase deficiencyDiseasesDBOrphanetMevalonatepathwayHMG-CoA lyase deficiencyHyper-IgD syndromeMevalonate kinase deficiencycholesterol7-DehydrocholesterolHydrops-ectopic calcification-moth-eaten skeletal dysplasiaCHILD syndromeConradi–Hünermann syndromeLathosterolosisSmith–Lemli–Opitz syndromedesmosterolDesmosterolosisSteroidsCorticosteroidaldosteroneGlucocorticoid remediable aldosteronismcortisolcortisoneCAH 17α-hydroxylaseCAH 11β-hydroxylaseCAH 3β-dehydrogenaseCAH 21-hydroxylaseApparent mineralocorticoid excess syndrome/11β-dehydrogenaseSex steroid17α-Hydroxylase deficiency17,20-Lyase deficiencyCytochrome b5 deficiency3β-Hydroxysteroid dehydrogenase deficiency17β-Hydroxysteroid dehydrogenase deficiency5α-reductase 2 deficiencyestrogensX-linked ichthyosisAntley–Bixler syndromeGonadal disorderOvarianPolycystic ovary syndromePremature ovarian failureHyperthecosisAndrogen receptorAndrogen insensitivity syndromeMild androgen insensitivity syndrome Partial androgen insensitivity syndromeComplete androgen insensitivity syndromeFamilial male-limited precocious pubertySertoli cell-only syndromeHypogonadismHypergonadismPrecocious pubertyHypoandrogenismHypoestrogenismHyperestrogenismPostorgasmic illness syndromeAndrogen-dependent conditionHypogonadotropic hypogonadismFertile eunuch syndromeEstrogen-dependent conditionPremature thelarcheGonadotropin insensitivityHypergonadotropic hypergonadism