She had a cachectic and old appearance, coarse face, extraverted nostrils, dry and loose skin, decreased subcutaneous adipose tissue, bilateral simian creases, diffuse hypertrichosis, which was especially prominent on the face, gingival hypertrophy, cliteromegaly, and prominent nipples (Picture 1-2).
Findings including breast hyperplasia, prominent nipples, ovarian cysts, juvenile granulosa cell ovarian tumor, Leydig cell hyperplasia, enlarged penis and cliteromegaly develop (2).
The genitalia were female with mild cliteromegaly and hypospadias.
Mild cliteromegaly and hypospadias also show exposure to low levels of androgens in the embryonic period.
Signs and symptoms of virilization including temporal hair loss, hirsutism, pubic hair growth, cliteromegaly
, phallic growth, voice deepening and acne were the prevailing manifestations seen in 3 of the patients.
Physically she was tall, with male pattern pubic hair, tanner stage 0 sized breast, having cliteromegaly
rather micro-penis of 1.8 cm.
Aromatase deficiency causes specific signs of maternal virilization including cystic acne, hirsutism, cliteromegaly and deep voice while resulting in significant masculinization in the external genitalia of the female fetus (4).
Signs of virilization such as acne, hirsutism, and cliteromegaly in keeping with androgen excess may also be present (1,2,19,20).
Genital examination disclosed female external genitalia with no cliteromegaly
, hirsutism, or acne.
On the other hand, depending on the degree of responsiveness of the external genitalia to androgens, findings in PAIS will show a wide spectrum varying from perineoscrotal hypospadias, bifid scrotum, cryptorchidism and pubertal gynecomastia to extreme inadequate virilization appearing as cliteromegaly
and labial fusion (5).
Affected individuals have a broad spectrum of presentation which may include normal female-appearing genitalia, cliteromegaly
, microphallus, hypospadias, or completely male-appearing genitalia (2).
Patients with PAIS present with a predominantly male phenotype with hypospadias or a predominantly female phenotype with cliteromegaly
and/or posterior labial fusion, ambiguous genitalia and variable degrees of gynecomastia at puberty.