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  • Amenorrhoea (primary) x
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Open access

Yotsapon Thewjitcharoen, Veekij Veerasomboonsin, Soontaree Nakasatien, Sirinate Krittiyawong and Thep Himathongkam

Summary

Primary amenorrhea could be caused by disorders of four parts: disorders of the outflow tract, disorders of the ovary, disorders of the anterior pituitary, and disorders of hypothalamus. Delay in diagnosis and hormone substitution therapy causes secondary osteoporosis. Herein, we report a case of a 23-year-old phenotypical female who presented with primary amenorrhea from 46, XX gonadal dysgenesis but had been misdiagnosed as Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome or Mullerian agenesis. The coexistence of gonadal dysgenesis and MRKH was suspected after laboratory and imaging investigations. However, the vanishing uterus reappeared after 18 months of hormone replacement therapy. Therefore, hormone profiles and karyotype should be thoroughly investigated to distinguish MRKH syndrome from other disorders of sex development (DSD). Double diagnosis of DSD is extremely rare and periodic evaluation should be reassessed. This case highlights the presence of estrogen deficiency state, the uterus may remain invisible until adequate exposure to exogenous estrogen.

Learning points:

  • An early diagnosis of disorders of sex development (DSD) is extremely important in order to promptly begin treatment, provide emotional support to the patient and reduce the risks of associated complications.
  • Hormone profiles and karyotype should be investigated in all cases of the presumptive diagnosis of Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome or Mullerian agenesis.
  • The association between 46, XX gonadal dysgenesis and Mullerian agenesis has been occasionally reported as a co-incidental event; however, reassessment of the presence of uterus should be done again after administration of exogenous estrogen replacement for at least 6–12 months.
  • A multidisciplinary approach is necessary for patients presenting with DSD to ensure appropriate treatments and follow-up across the lifespan of individuals with DSD.
Open access

L I Astaf’eva, Y G Sidneva, B A Kadashev, P L Kalinin, G A Melnichenko and S A Agadzhanian

Summary

A 32-year-old woman presented with primary amenorrhoea, prolactin (PRL) level of 154 150 mIU/L and was diagnosed with a giant pituitary adenoma measuring maximum 6.2 cm. Cabergoline (CAB) treatment at a dose of 0.5 mg/week was prescribed to the patient. The treatment decreased the tumour size after 3 months (MRI scans of the brain) and brought back to normal the level of the PRL (345 mIU/L) after 6 months of CAB treatment. After 7 months of CAB treatment, menarche was achieved, and after 12 months, the patient became pregnant. She discontinued taking CAB at 4-week gestation. The pregnancy resulted in a missed miscarriage at 6–7 weeks; an abortion was conducted by the vacuum aspiration method. The MRI scans of the brain did not show any tumour enlargement. After 18 months from the start of the treatment the patient got pregnant for the second time. At 25-week gestation an MRI scan of the brain was conducted which did not show any increase in the tumour size. At 38 weeks the patient delivered a healthy full-term girl via C-section. The patient chose not to breastfeed and resumed CAB therapy after the delivery. During the treatment, the PRL level returned to the normal range and the menstrual cycle was restored. After 3 years the patient got pregnant for the third time. The patient did not receive CAB during the pregnancies; the examination did not show any tumour enlargement. Further MRI scans did not show any tumour growth. CAB therapy was effective in normalization of the PRL level, tumour shrinkage, menarche and pregnancy-induction which led to the birth of healthy children in a woman with primary amenorrhoea and a giant prolactinoma invading the skull base bones.

Learning points:

  • Giant prolactinomas are very rarely found in women.
  • Cabergoline therapy can be effective in the normalization of the PRL level, tumour shrinkage, menarche induction in a woman with primary amenorrhoea, and giant prolactinoma.
  • Cabergoline therapy can be effective in pregnancy induction which leads to the birth of children in a woman with giant prolactinoma.
  • Cabergoline discontinuation did not trigger tumour enlargement during pregnancy.
Open access

N Chelaghma, S O Oyibo and J Rajkanna

Summary

Hypogonadotrophic hypogonadism is due to impaired or reduced gonadotrophin secretion from the pituitary gland. In the absence of any anatomical or functional lesions of the pituitary or hypothalamic gland, the hypogonadotrophic hypogonadism is referred to as idiopathic hypogonadotrophic hypogonadism (IHH). We present a case of a young lady born to consanguineous parents who was found to have IHH due to a rare gene mutation.

Learning points:

  • The genetic basis of a majority of cases of IHH remains unknown.
  • IHH can have different clinical endocrine manifestations.
  • Patients can present late to the healthcare service because of unawareness and stigmata associated with the clinical features.
  • Family members of affected individuals can be affected to varying degrees.
Open access

S Vimalesvaran, S Narayanaswamy, L Yang, J K Prague, A Buckley, A D Miras, S Franks, K Meeran and W S Dhillo

Summary

Primary amenorrhoea is defined as the failure to commence menstruation by the age of 15 years, in the presence of normal secondary sexual development. The potential causes of primary amenorrhoea extend from structural to chromosomal abnormalities. Polycystic ovarian syndrome (PCOS) is a common cause of secondary amenorrhoea but an uncommon cause of primary amenorrhoea. An early and prompt diagnosis of PCOS is important, as up to 30% of these women are predisposed to glucose intolerance and obesity, with the subgroup of women presenting with primary amenorrhoea and PCOS displaying a higher incidence of metabolic dysfunction. We describe a case of an 18-year-old female presenting with primary amenorrhoea of unknown aetiology. Although initial investigations did not demonstrate clinical or biochemical hyperandrogenism or any radiological evidence of polycystic ovaries, a raised luteinising hormone (LH) suggested a diagnosis of PCOS. If PCOS was the correct diagnosis, then one would expect intact hypothalamic GnRH and pituitary gonadotropin release. We used the novel hormone kisspeptin to confirm intact hypothalamic GnRH release and a GnRH stimulation test to confirm intact pituitary gonadotroph function. This case highlights that kisspeptin is a potential unique tool to test GnRH function in patients presenting with reproductive disorders.

Learning points:

  • Polycystic ovarian syndrome (PCOS) can present with primary amenorrhoea, and therefore, should be considered in the differential diagnosis.
  • PCOS is a heterogeneous condition that may present in lean women with few or absent signs of hyperandrogenism.
  • GnRH stimulation tests are useful in evaluating pituitary function; however, to date, we do not have a viable test of GnRH function. Kisspeptin has the potential to form a novel diagnostic tool for assessing hypothalamic GnRH function by monitoring gonadotropin response as a surrogate marker of GnRH release.
  • Confirmation of intact GnRH function helps consolidate a diagnosis in primary amenorrhoea and gives an indication of future fertility.
Open access

Carla Costa, Cíntia Castro-Correia, Alda Mira-Coelho, Bessa Monteiro, Joaquim Monteiro, Ieuan Hughes and Manuel Fontoura

Summary

The development of male internal and external genitalia in an XY fetus requires a complex interplay of many critical genes, enzymes, and cofactors. The enzyme 17β-hydroxysteroid-dehydrogenase type 3 (17βHSD3) is present almost exclusively in the testicles and converts Delta 4-androstenodione (Δ4) to testosterone. A deficiency in this enzyme is rare and is a frequently misdiagnosed autosomal recessive cause of 46,XY, disorder of sex development. The case report is of a 15-year-old adolescent, who was raised according to female gender. At puberty, the adolescent had a severe virilization and primary amenorrhea. The physical examination showed a male phenotype with micropenis and blind vagina. The Tanner stage was A3B1P4, nonpalpable gonads. The karyotype revealed 46,XY. The endocrinology study revealed: testosterone=2.38 ng/ml, Δ4>10.00 ng/ml, and low testosterone/Δ4 ratio=0.23. Magnetic resonance imaging of the abdominal–pelvic showed the presence of testicles in inguinal canal, seminal vesicle, prostate, micropenis, and absence of uterus and vagina. The genetic study confirmed the mutation p.Glu215Asp on HSD17B3 gene in homozygosity. The dilemma of sex reassignment was seriously considered when the diagnosis was made. During all procedures the patient was accompanied by a child psychiatrist/psychologist. The teenager desired to continue being a female, so gonadectomy was performed. Estrogen therapy and surgical procedure to change external genitalia was carried out. In this case, there was a severe virilization at puberty. It is speculated to be due to a partial activity of 17βHSD3 in the testicles and/or extratesticular ability to convert Δ4 to testosterone by 17βHSD5. Prenatal exposure of the brain to androgens has increasingly been put forward as a critical factor in gender identity development, but in this case the social factor was more important for the gender assignment.

Learning points

  • In this case, we highlight the late diagnosis, probably because the patient belongs to a poor family without proper primary medical care.
  • We emphasize the psychological and social aspects in the sex assignment decision.