Summary:
Gonadal dysgenesis is a rare cause of primary
amenorrhoea ,which is a relatively common problem among
teenage girls.Primary amenorrhoea occurs in patient with
gonadal dysgenesis because of absence or limited ovarian
function due to inappropriate development.Streak gonads
are unable to produce estrogens and/or androgens,resulting
in minimal to no development of secondary sexual
characteristics.Adrenal androgens may induce production
of pubic hair,but patient will have minimal breast
development.These patients may have a family history of
infertility, short stature,sensorineural deafness,ataxia,mild
mental retardation or gonadoblastoma.
Here two cases of primary amenorrhoea due to pure
gonadal dysgenesis are presented. 1st one was a 18yr old
girl whose mother consulted with a gynaecologist at the
age of 16yr because of her worries about absence of
menarche of her daughter and secondone was a 14yr old
girl whose mother consulted with a gynaecologist at the
age of 16yr because of absence of secondary sexual
characteristics as well as menarche of her daughter.
In both cases, blood test showed very high levels of follicle
stimulating hormone (FSH) & luteinizing hormone (LH),
low levels of oestradiol& very low level of AMH. USG
findings of both cases showed a bit hypoplastic uterus and
volume of ovaries were smaller than normal. A diagnostic
laparoscopy with biopsy of both gonads of one case was
performed.Another case did not give consent for
laparoscopy.Hormonal replacement therapy was applied
on them for establishment of normal menstruation and
menstruation was established in both cases.
An early diagnosis is extremely important to prevent long
term consequences of Gonadal dysgenesis.
Key word: Primary Amenorrhoea, Gonadal dysgenesis.
(J Bangladesh Coll Phys Surg 2018; 36: 170-174)
DOI: http://dx.doi.org/10.3329/jbcps.v36i4.36089