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IEMbase 0128: CYP19A1-related Aromatase deficiency

Scope

Field Value
IEMbase ID 128
Nosology 24.2.15.01
Gene CYP19A1
External IDs OMIM:107910; ORPHA:91
Generated mapping MAPPED, high confidence
Candidate DisMech targets Aromatase_Deficiency.yaml
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents this as CYP19A1-related aromatase deficiency, with alternate label Aro deficiency. Treatability is marked unknown.

The characteristic biochemical rows are increased FSH, increased LH, and increased gonadotropins. Clinical rows include varying degrees of genital ambiguity in 46,XX individuals and virilization. No treatment rows are listed.

DisMech phenotype coverage

Aromatase_Deficiency.yaml is the correct local target. It describes autosomal recessive CYP19A1 loss of function with impaired androgen-to-estrogen conversion, congenital estrogen deficiency, and androgen excess. The local entry captures sex- and age-dependent presentation across 46,XX and 46,XY individuals.

DisMech phenotype coverage includes maternal antenatal virilization, ambiguous genitalia, clitoromegaly, delayed puberty, hypergonadotropic hypogonadism, primary amenorrhea, polycystic ovaries, infertility, delayed skeletal maturation, tall stature, osteoporosis/osteopenia, and insulin resistance. Biochemical rows include serum estradiol and serum testosterone, and treatment coverage includes estrogen replacement therapy.

Concordance and completeness

Judgement: correct mapping, with DisMech substantially richer for clinical scope.

The IEMbase record confirms the expected hypergonadotropic pattern and virilization/genital ambiguity signal, but it is much narrower than the local entry. DisMech better captures estrogen deficiency, androgen excess, skeletal and metabolic consequences, and treatment. IEMbase adds explicit FSH, LH, and gonadotropin rows that would strengthen endocrine-feedback coverage.

Curation actions

  • Keep Aromatase_Deficiency.yaml as the canonical target.
  • Consider adding FSH, LH, and gonadotropin elevation to the biochemical or endocrine feedback representation.
  • No mapping correction is needed.