Amenorrhea – Case Study Example
Amenorrhea – Case Study Example
This paper will discuss a case study that involves a 30-year-old female whose has secondary amenorrhea for six months. Prior to being diagnosed with the disorder, she presented with periods of irregular cycles and dysmenorrhea. Thus, the paper will discuss the pathophysiology of the disorder and it possible causes in relation to irregular cycles and dysmenorrhea.
Amenorrhea is a menstrual disorder that refers to the absence of menstruation in a woman who had been previously having their normal menstrual cycle. Secondary is used to refer to menstruation that had previously occurred at least for some period but stopped for a period of six months or longer due to some reasons. In order for the woman to be diagnosed with secondary amenorrhea, they must miss their menstrual period for a period of at least three to six months without being pregnant (Heiman, 2009). Amenorrhea – Case Study Example. The most significant contributing factors include the use of birth control pills, certain medications and stress that also have been associated to cause dysmenorrhea (painful cramping) and irregular cycles. The most common reason as to why a woman will miss their period is as a result of pregnancy. However, it should be noted that pregnancy, menopause and breastfeeding are not classified as causes of the disorder. Secondary amenorrhea is not harmful to the patients’ health as it can be treated effectively in the majority of the cases according to the pathophysiology. Thus, it is important for the health care practitioner to address the underlying condition causing the menstrual disorder to ensure that optimal health of the woman is regained (Klein & Poth, 2013).
The hypothalamus is involved in generating the gonadotropin-releasing hormones that are responsible for stimulating the pituitary gland to produce the gonadotropins i.e. the Luteinizing Hormone and Follicle- stimulating hormone into the blood stream. These gonadotropins are important in .. Amenorrhea – Case Study Example.
A 22-year-old married woman presented with complaints of amenorrhoea and masculinisation. She had hoarseness of voice, hirsutism and ambiguous genitalia. Uterus, cervix and vagina were normal. Investigations revealed a high testosterone level, insignificant luteinizing hormone/follicle stimulating hormone (LH/FSH) and a raised 17-OH progesterone level. Ultrasonography revealed no ovarian or adrenal mass. A diagnosis of 21-hydroxylase deficient classic congenital adrenal hyperplasia, simple virilising form was considered. She was put on prednisolone and given oral contraceptive pill containing cyproterone acetate. Her testosterone level decreased and spontaneous menstruation started. She desired conception and ovulation was induced with clomiphene citrate. She conceived in the second menstrual cycle on clomiphene 50 mg. Imaging at 6 weeks revealed a viable fetus, and an anomaly scan at 16 weeks showed a healthy fetus. However, unfortunately, she aborted around 21 weeks. A scan immediately prior to abortion revealed a subchorionic haematoma.
Background
Classic adrenal hyperplasia is a rare entity, the overall incidence being 1:15 000 and in Caucasians being 1:23 000.The case is being presented because of its rarity and the simple manner in which it was diagnosed. The investigations conducted were specific and a very economical treatment was rendered considering the low socioeconomic status of the patient.
The case highlights the mental make-up of Asian women for whom fertility is the prime concern, as she opted for management of infertility rather than reconstructive surgery.
Case presentation
A 22-year-old woman married for 6 months presented with complaints of amenorrhoea for the past few years. The woman told that she used to enjoy playing with boys and, as she grew up, she was coaxed by her parents to wear feminine clothes. She had started with spontaneous menstruation at the age of 14 years; however, the blood flow was scanty. She had menses for about a year and then amenorrhoea ensued. On questioning, she gave history of some cyclic treatment during adolescence.
On examination on 29 September 2009, her height was 160 cm and weight 45 kg. She had marked hoarseness of voice, temporal balding and facial hirsutism. Amenorrhea – Case Study Example. Local examination revealed hair on chest and male pattern pubic hair. She was found to have a small penis which she told had increased in size in the last few years. Per speculum and per vaginum examination revealed a normal size uterus and normal length of vagina. She was normotensive and her blood pressure was 110/70
Investigations
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Thyroid-stimulating hormone 1.07 miu/ml
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Luteinizing hormone/follicle stimulating hormone 5.34/3.22 miu/ml.
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S prolactin 5.04 ng/ml
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Fasting blood sugar 90 mg%
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Total testosterone 504.96 (range 14.0–76.0 mg/dl)
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Dehydroepiandrosterone sulphate 382 μg/dl (range 35–430 μg/dl)
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17-A-hydroxy progesterone 120.4 ng/ml (range 0.19–4.69 ng/ml)
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Ultrasonography— uterus was normal-sized; both ovaries were normal-sized and no adrenal mass was noted.
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Serum electrolytes were in the normal range.
On analysis, total testosterone was markedly raised but there was no androgen-secreting adrenal or ovarian tumour. Dehydroepiandrosterone sulphate levels were on the higher side of normal and 17-A-hydroxy progesterone was also markedly raised. A diagnosis of 21-hydroxylase-deficient classic congenital adrenal hyperplasia was considered. Amenorrhea – Case Study Example.
Treatment
She was started on 7.5 mg prednisolone at bedtime and withdrawal given with 10 mg, twice a day, medroxy progesterone. For three cycles, she was given high-dose oral contraceptive pill containing cyproterone acetate and spironolactone 100 mg, twice a day, to reduce testosterone levels. After 3 months, her S testosterone came down to 166.55 ng/dl. She was continued on prednisolone 5 mg alone. She was given supplemental calcium throughout the therapy.
However, she went to her parent’s home and left treatment in-between. She again presented to us on 8 December 2010 with four months amenorrhoea and also complained of manliness. Amenorrhea – Case Study Example.Prednisolone 7.5 mg at bedtime was restarted and progesterone withdrawal was given. After 6 weeks of prednisolone therapy, her S testosterone level dropped to 31.92 ng/dl.
Induction of ovulation
She desired conception so induction of ovulation was planned.
From day 2 of spontaneous menstruation, clomiphene citrate 100 mg was started for 5 days along with prednisolone 5 mg. Her follicle size was 22×18 mm on day 13. She ovulated after human chorionic gonadotrophin 5000 IU but did not conceive. In the next cycle, she was started on clomiphene citrate 50 mg from day 2 of the periods. On day 13, her follicle size was 17.8×18 mm. She ovulated and was given supplemental progesterone in luteal phase. She reported on 19 March with 5 weeks amenorrhoea, and her pregnancy test was found to be positive. A six weeks viable pregnancy was visualised. An anomaly scan at 16–18 weeks revealed a healthy fetus with no anomalies .
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Anomaly scan at 16 weeks pregnancy.
Outcome and follow-up
The woman stopped her antenatal visits and went to her native village. She came back after 4 months with a history of spontaneous abortion around 21 weeks. An ultrasound scan immediately prior to abortion showed a healthy fetus with a subchorionic haematoma (figure 3).
Picture showing subchorionic haematoma.
Discussion
The incidence of classical congenital adrenal hyperplasia is 1:23 000 live-births in Caucasian women.1
In women, classical congenital adrenal hyperplasia is characterised by genital ambiguity. It can be due to deficiency of 21-hydroxylase, 11-β-hydroxylase or 3-β-hydroxylase. Amenorrhea – Case Study Example.
Causes of congenital adrenal hyperplasia.
Types of congenital adrenal hyperplasia.
Effects of 21- hydroxylase deficiency (Jain.D)
21-hydroxylase deficiency is held responsible for more than 90% cases of virilising congenital adrenal hyperplasia.2
Classical 21-hydroxylase deficency can result in either the salt-wasting type or the simple virilising form of adrenal hyperplasia. The salt-wasting types present with adrenal insufficiency besides virilisation and many die because of adrenal crisis in childhood.3 The simple virilising forms, however, reach adult hood. The third and least severe, non-classical form of 21-hydroxylase deficiency results in late onset adrenal hyperplasia with signs of hyperandrogenism and hirsutism but normal external genitalia. Amenorrhea – Case Study Example. The fertility in women with classical congenital adrenal hyperplasia is lower than in normal women.4 5
This is because of chronic anovulation as a result of excess adrenal androgens and disordered pattern of gonadotropin production.6
Our patient started spontaneous menstruation after reduction in testosterone level with prednisolone. Conception occurred after ovulation was promoted with clomifene citrate.
Unfortunately, the patient aborted at 21 weeks. Had the girl reached term, we would have learnt about the incidence of gestational diabetes, a higher incidence being reported,7 in pregnant women with congenital adrenal hyperplasia.
These women have a higher incidence of caesarean section because of android nature of the pelvis. Maternal serum androgens become very high in pregnant women with congenital adrenal hyperplasia, but the female fetus is protected from masculinisation by the placental aromatase enzyme. Amenorrhea – Case Study Example.
