Aromatase deficiency: an unusual cause for primary amenorrhea with virilization.

[aromatase deficiency]

The most common cause for menstrual abnormality and virilization in children and adolescents would be congenital adrenal hyperplasia . An elevated 17 (OH ) progesterone is invariably seen in this condition . Aromatase deficiency can also lead to a similar presentation but differs in several aspects . The age of onset of the clinical manifestations , the phenotype , biochemical abnormalities and karyotype help us to arrive at a definitive diagnosis . However sometimes the history is atypical , biochemical abnormalities may overlap between the different conditions and prior treatment may modify the clinical features . We report here a young adult with a late presentation of aromatase deficiency to highlight the differences between the two conditions . A 27 year old lady presented to us with history of primary amenorrhea and masculine voice . She lacked feminine secondary sexual characters , had eunuchoid body habitus and prominent clitoromegaly . Consanguinity in the parents , a neonatal sibling death and elevated basal 17 (OH ) progesterone in the patient suggested a possibility of congenital adrenal hyperplasia . But the eunuchoid body habitus raised FSH and lack of response to dexamethasone led to a diagnosis of aromatase deficiency . Variability in the degree of aromatase deficiency is known such that maternal virilization may not occur in pregnancy . Aromatase deficiency should be suspected when a patient presents with primary amenorrhea , absence of female secondary sexual characters , virilization and tall stature with eunuchoid body proportions , and biochemical features of ovarian failure . In our country one should be aware that late presentation and prior treatment may modify disease expression and contribute to the diagnostic challenge .

Diseases
Validation

Diseases presenting "late presentation" symptom

achondroplasia

aromatase deficiency

canavan disease

congenital diaphragmatic hernia

esophageal adenocarcinoma

esophageal carcinoma

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