Article Text

Rare disease
46 XX pure gonadal dysgenesis: an infrequent cause of primary amenorrhoea
  1. Salvador Pertusa1,
  2. Ana Palacios2
  1. 1
    Centro Salud Cabo Huertas, C/Arpon S/N, Alicante, 03540, Spain
  2. 2
    Hospital Marina Baixa, Obstetrics and Gynaecology, Alcalde En Jaume Botella, Villajoyosa (Alicante), 03570, Spain
  1. Salvador Pertusa, spertusam{at}


Amenorrhoea can be primary or secondary. Primary amenorrhoea is a relatively common problem among teenage girls. They usually consult their paediatrician or family doctor. This condition is present in patients with normal secondary sexual characteristics but no menarche by 16 years of age, or patients who have not had menstrual flow by age 14 and are lacking normal secondary sexual characteristics. Gonadal dysgenesis is an infrequent cause for primary amenorrhoea. In this paper, the case of a 16-year-old girl whose mother consulted their family doctor because of worries about her daughter’s lack of menarche is presented. A blood test showed elevated levels of follicle stimulating hormone (FSH) and luteinising hormone (LH) and low levels of oestradiol. An abdominal ultrasound was abnormal. A diagnostic laparoscopy with biopsy of both gonads was performed. Replacement hormonal therapy was applied resulting in normal menstruations after few months. An early diagnosis is extremely important.

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  • Competing interests: none.

  • Patient consent: Patient/guardian consent was obtained for publication.