Endocrine Abstracts

Case History: This 19-year-old Caucasian female was seen in the Endocrine clinic with history of primary amenorrhea. She had a low sexual drive, no breast development but reported presence of axillary and pubic hair growth. Her main concern was whether she would be able to conceive. She had no comorbidities and took no regular medications. She never smoked and consumed no alcohol. On examination, she was 171 cm tall with a weight of 65.5 kg. She had normal external female genitalia. The cardiovascular, respiratory and abdominal examination was normal. The breasts were undeveloped (Tanner stage I), with sparse long pubic hair (Tanner stage II).

Investigations: Anterior pituitary profile, anti-Müllerian hormone (AMH), oestradiol, thyroid function, pelvic ultrasound scan, MRI scan of the abdomen and pelvis as well as karyotyping.

Results and treatment: Oestradiol (< 55pmol/l (normal= 82-903)) and AMH (<0.2pmol/l) were undetectable. Gonadotropins were significantly raised with a FSH-100 IU/L (normal=3.0-9.0) and LH-30IU/L (normal 2.0-11.0). Other hormones measured were normal; TSH-1.4mU/L (normal 0.35-4.7), Testosterone-0.9nmol/l (normal=0-1.9), SHBG-37nmol/l (normal=35-100), IGF-1-29.2nmol/l (normal=14.0-54.0) Trans-vaginal ultrasound scan showed no ovaries, a very small uterus with a very thin endometrium of 0.7mm. MRI pelvis showed a small uterus, with a thin streak of tissue where the uterus fundus should be but no discernible zonal anatomy. There was no endometrial stripe and no ovaries. The cervix was small but normal cervical anatomy. The vagina was normal. Other abdominal organs were normal. Karyotyping results are pending. The patient was to be started on combined hormonal replacement therapy (HRT).

Conclusions and points for discussion: This patient has a combination of ovarian agenesis and Müllerian duct hypoplasia. Primary amenorrhea with hypergonadotropic hypogonadism and absent ovaries on imaging supports a diagnosis of ovarian agenesis. Karyotyping results are pending. Differential causes of ovarian agenesis may include pure gonadal dysgenesis 46XX, Turner syndrome with mosaicism or the rare forms of non-mosaic Turner syndrome where individuals could be of tall stature similar to this case. Other causes like 46XY Swyer syndrome are possible but unlikely in our patient. She has presented late, which is unusual, when puberty can’t be induced. Using the ESHRE/ESGE classification of congenital female genital tract anomalies, this patient is U5b (aplastic uterus with rudimentary cavity), C0 (normal cervix), V0 (normal vagina). This makes Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome less likely. Treatment is with HRT. She will also need a baseline DXA scan and psychological counselling to come to terms with the diagnosis.