When ovaries fail, hope for a family fades

Fertility

A stressed couple. Premature ovarian failure is when the ovarian function fails before the age of 40. PHOTO | SHUTTERSTOCK

Safia* stood at the doorway to my consulting room and I could not help but ask if she was a professional model. She looked stunning in her simple white shift dress and Moroccan sandals. She had clear flawless skin and a cascade of soft curls flowing down her back. All this was accessorised with an attractively unassuming demeanour.

Safia was accompanied by her husband Gunther*, who had made the appointment because he was concerned about his wife. Gunther and Safia had met in the UK when Safia went to study for her master’s in economics. The two hit it off, but when Gunther proposed to Safia, she was hesitant. Safia always knew she wanted to live back home in Kenya. She could only say yes if Gunther would be comfortable moving to back with her.

Gunther was essentially a world citizen; German by birth, raised in the Netherlands and schooled in the US, he was no stranger to starting afresh in a new country. He had been in London for five years and was happy to explore Africa.

Six years after their wedding, the couple were at the end of their wits. They had not been successful in starting a family and now, at the age of 32, Safia’s menstrual periods were beginning to misbehave. Safia came from a large close knit family and nieces and nephews kept coming while her home remained child-free. Gunther could see how this hurt her and despite her reluctance to see a doctor, he was convinced this was the best course of action.

EXTREMELY HEALTHY

Safia developed normally enough and started her menses at 15 years. These had been generally regular though exceptionally light. While her peers struggled with period pain and heavy flow, hers lasted just two days, demanding little attention. Now her periods are all she could think of. In one year, she had experienced her menses five times. At first she attributed it to too much work-related travel, but for five months she had slowed down and even taken her long-overdue leave. Things had not been better.

A thorough medical history from Safia did not reveal anything untoward and we moved on to the physical examination. Safia was generally tall and her delicate frame added up to her being slightly underweight. Though she had a full mane of hair on her head, she had very fine and scanty pubic and axillary hair. Upon enquiry, she noted that this had been consistent all her life. She was otherwise extremely healthy.

On examination of her genital tract, it was quite unexpected to find that though her external genitalia appeared completely normal, the same could not be said of the internal examination. Though her vaginal canal appeared normal and moist, the cervix was extremely small, the size of a five-year old’s cervix. It did have normal cervical secretions.

OVARIAN FAILURE

I explained my findings on examination to the couple and we discussed the various tests we would like to do to give us direction on the possible diagnosis. After several hormonal tests, imaging and even karyotyping (assessment of an individual’s chromosomes for any abnormalities), we arrived at the difficult diagnosis of premature ovarian failure (failure of ovarian function before the age of 40).

To say the couple were devastated is an understatement. Safia was crushed. She wept for days on end and we had to include a psychologist for mental support and counselling. Gunther was deeply disappointed at the possibility of never being able to sire a baby, but he was even more distraught at the anguish his wife was going through. It was a stormy couple of months as the couple gradually accepted the diagnosis.

Safia’s ovaries were essentially losing their capacity to produce mature eggs (ovulation) necessary to make a baby way before menopause. Even worse is that the function of ovulation is intricately linked to production of female reproductive hormones, so her hormonal levels were way below expected values. The bad news was that this was a failure of the ovary itself and not as a result of a problem elsewhere.

All her other hormones in the body were functioning perfectly. There was no chromosomal abnormality and she did not suffer from any autoimmune diseases (where the immune system starts to attack the owner’s body) that could result in ovarian insult. The ultrasound showed a normally shaped uterus which was half the size of a normal adult uterus, hence the small cervix. It appears that either Safia’s ovaries never fully developed in her foetal stage or there was interference with the development of adequate dormant eggs prior to puberty. It could also be destruction of the ovaries or the eggs after their formation, such as by infections that could have long healed.

MIND HER DIET

It took a lot of counselling for Safia and Gunther to understand how narrow the chance of a conception was in their case. Safia would need hormone replacement therapy for years to protect her bones from osteoporosis and also shield her from cardiovascular diseases and stroke. She would have to exercise often to maintain good muscle tone and would have to mind her diet and take regular supplements to keep her healthy.

It was even harder to discuss the options of a family. At first, Sofia did not want to hear about the possibility of assisted reproductive technologies, donor eggs, surrogacy and adoption, but after long discussions with her large supportive family and Gunther’s rather lean one, they agreed to explore the option of donor egg with surrogacy. Her own sister was more than willing to help, even if it meant moving to Germany for almost two years.

Three years later, Safia is a contented woman and Gunther could not be happier. The couple were able to start their own family following the arrival of their fraternal twins borne of in vitro fertilisation courtesy of Safia’s sister. Not only did she donate her eggs generously, but she also carried them.
When they say parenting is not a straight line, Safia and Gunther’s story demonstrates just how convoluted it can really be.


Dr Bosire is an obstetrician/gynaecologist