Endocrine Abstracts

We report a late presentation of complete androgen insensitivity syndrome (AIS) in a phenotypic female. The patient presented with primary amenorrhoea at age 37, after ten years of heterosexual marriage. She experienced monthly pelvic pain and breast tenderness but no menstrual bleeding. Her family history was significant for primary amenorrhoea in two of her three sisters. Physical examination revealed Tanner 2 breast development, reduced axillary and pubic hair, and normal external female genitalia. Her Testosterone was raised (38 nmol/l, 0.5-1.9 for females) with high LH (17 IU/l, 1.8-11.8). The rest of her synacthen test for cortisol and 17 OH progesterone and anterior pituitary hormones were within the reference ranges. Pelvic ultrasound revealed a shallow blind-ended vagina of 3 cm and an absence of uterus and ovaries. MRI scan confirmed the absence of intraabdominal uterus and ovaries and revealed gonadal structures at the external orifices of the inguinal canal. She had osteopenia at the spine, femoral neck, and hip on bone densitometry. Genetic testing confirmed 46 XY karyotypes. Fluorescence sequence analysis of the patient’s DNA found her to be hemizygous for an in-frame deletion (c.2077_2079delAAC) in exon 4 of the Androgen Receptor gene, resulting in abnormal Androgen Receptor protein, confirming complete AIS. The patient was offered gonadectomy with long-term hormone replacement treatment but chose regular ultrasound surveillance. Bone health was addressed by vitamin D supplementation, as her level of total vitamin D was undetectable. Genetic counselling has been provided to the couple. The case demonstrated the challenges in diagnosing and managing AIS in phenotypic females presenting many years after puberty.