systemic sclerosis ( ssc ) is a complex autoimmune connective tissue disorder with a prevalence of five per 100,000 and an incidence of one per 100,000 .
the skin is invariably involved , but commonly affected internal organs include the cardiovascular system , the lungs and the gastrointestinal system . however , uncommon manifestations present clinical dilemmas .
this case of ssc describes the unique involvement of the ovaries leading to premature ovarian failure ( pof ) , without the involvement of any other internal organs .
a 31-year - old woman , parity one ( full - term , normal vaginal delivery ) , with no abortions presented with inability to conceive and amenorrhoea of 3 years duration .
she had raynaud s phenomenon for 16 years , primary hypothyroidism for 5 years ( though euthyroid on treatment with thyroxine 100 g once daily ) , digital ulcers for 4 years and shortening of the terminal digits , decreased mouth opening and skin tightening for 2 years .
there was no history of fever , weight loss , anorexia , sleep disturbance , symptoms of the respiratory , the cardiovascular , the gastrointestinal or the nervous system involvement , or the intake of any drugs ( apart from thyroxine ) or substance abuse .
she had an expressionless face [ figure 1 ] , with loss of wrinkles , a taut and shiny skin , a reduced oral aperture ( permitting only two fingers ) and a pinched beak - like nose .
there was fixed flexion contracture of the fingers of the upper limbs [ figure 2 ] and amputation of the 2 digit of the left lower limb [ figure 3 ] .
an expressionless face , a taut and shiny skin , loss of wrinkles , with a reduced oral aperture and a pinched beak - like nose thickened , fixed flexion contracture of the fingers of the upper limbs amputation of the 2 digit of the left lower limb investigations revealed the following : haemoglobin  8.6 g / dl , total leucocyte count ( tlc )  4.6  10/mm , platelet count  1.01  10/mm and erythrocyte sedimentation rate ( esr )  75 mm at the end of the 1 hour ; the liver and the kidney functions and blood sugar were normal .
electrocardiogram , echocardiography , chest x - ray and pulmonary function test parameters were also normal .
serum tsh level was 4.61 iu / ml ( normal 0.345.6 iu / ml ) , and anti - thyroid antibodies were negative .
the following serum immunohistochemistry findings were suggestive of ssc : positive ana ( by indirect immunofluorescence , at 1:100 dilution ) , 3 + positivity for scl-70 , anti - dsdna by elisa was 24 iu /
ml ( normal value < 25 ) , and p - anca , c - anca and anti - lkm were negative .
ultrasonography revealed the presence of normal - sized ovaries ( left 2 cm  1.8 cm  1 cm and right 2.4 cm  2 cm  0.8 cm ) with absent ovarian follicles and normal - sized uterus ( 7.2 cm  5.4 cm  3.6 cm ) , with an endometrial thickness of 3 mm ( with normal being more than 45 mm ) .
serum fsh level was 125.6 and 130 iu / l on two separate occasions 1 month apart ( normal 110
iu / l ) , and serum luteinizing hormone ( lh ) level was 56.42 iu / l ( normal 1.6815
a diagnosis of ssc was made on the basis of the characteristic clinical features on history taking and examination and positive serum immunohistochemistry ; secondary amenorrhoea was attributed to pof .
fertility issues in the patients with ssc have been debated over decades . it is surmised that the deleterious effects of ssc begin long before conception because of several reasons .
the reasons include the psychosocial issues of reduced self - esteem and altered body image arising as a result of skin discolouration and hardening , perioral skin tightening , finger lesions , and digit amputation , as well as because of physical ailments namely vaginal dryness , dyspareunia , arthritic involvement and contractures . in a comprehensive paper published at the turn of the century
, it was reported that fertility in the patients with ssc was not significantly different from that in patients with rheumatoid arthritis and the healthy control population , when adjustments were made for possible contributing factors .
pof is a cessation of the ovarian function before the age of 40 years , and it may occur due to chromosomal causes ( turner syndrome and fragile x syndrome ) , iatrogenic causes ( radiation , chemotherapy and surgery ) , infections , autoimmune disorders , galactosemia , savage syndrome , cigarette smoking , etc .
pof occurs in < 1% of women ; its incidence is about one in 1000 women by the age of 30 years , one in 250 by the age of 35 years and one in 100 by the age of 40 years . depending on various studies
the evidence of autoimmunity in these cases is suggested by the presence of ovarian autoantibodies , lymphocytic oophoritis or other autoimmune disorders .
the former two conditions are difficult to assess because of the absence of sensitive and specific tests to measure ovarian autoantibodies .
hypothyroidism , diabetes mellitus and addison disease are the common autoimmune disorders associated with pof .
there are very few reports in which premature menopause has been reported in the patients with ssc . way back in 1983 , by observing the age of menopause in patients with scleroderma , it was reported that the ovaries were not involved in scleroderma . however , in 1995 , among 60 patients with scleroderma , vaginal dryness , ulceration , dyspareunia and many menstrual abnormalities were observed , but premature menopause was seen in only two patients at the ages of 29 and 38 years , respectively .
vural et al . reported pof in a 25-year - old woman with localized scleroderma .
however , a recent study in 2012 stated that scleroderma does not cause pof unless treated with alkylating agents such as cyclophosphamide .
this patient had marked digital ulcerations and also loss of the digits , depicting severe peripheral vascular involvement , which is reflective of a systemic involvement .
however , there was no involvement of the visceral organs , that is , the heart or the lungs , in this patient , although the ovaries were involved , which is very rare and unusual .
the inflammation and microvascular damage to the ovaries might have resulted in pof in this case , but in the absence of any other visceral organ involvement , it is very difficult to comment on the exact mechanism .
the study of pof as a cause of infertility in the patients with ssc is important , because it is irreversible and can save the couple from unnecessary investigations and psychological trauma .
moreover , early menopause in the patients with ssc predicts pulmonary hypertension , which is one of the causes of mortality in these patients .
additionally , menopause per se has an additive effect on the risk for common co - morbidities such as cardiovascular disease and osteoporosis .
pof can be a possible cause of amenorrhoea in the patients with ssc , and it can be a poor predictor of disease progression .
further , the link of pof needs to be correlated with other complications of ssc .
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has / have given his / her / their consent for his / her / their images and other clinical information to be reported in the journal .
the patients understand that their names and initials will not be published and due efforts will be made to conceal their identity , but anonymity can not be guaranteed .
the authors certify that they have obtained all appropriate patient consent forms . in the form the patient(s )
has / have given his / her / their consent for his / her / their images and other clinical information to be reported in the journal .
the patients understand that their names and initials will not be published and due efforts will be made to conceal their identity , but anonymity can not be guaranteed .
 a 31-year - old woman presented with secondary amenorrhoea and inability to conceive , which was of 3 years duration . 
 she had raynaud s phenomenon for 16 years , primary hypothyroidism for 5 years , digital ulcers for 4 years and skin tightening for 2 years . 
 she had an expressionless face , with loss of wrinkles and restriction of the mouth opening along with flexion contractures of the hands and the terminal digit resorptions . 
 investigations showed antinuclear antibodies ( ana ) and anti - scl 70 positivity confirming the presence of systemic sclerosis ( ssc ) . 
 the follicle stimulating hormone ( fsh ) level was elevated , the ovarian follicles were absent , and the endometrial thickness was reduced confirming premature ovarian failure ( pof ) . 
 pof causing infertility and secondary amenorrhoea in ssc is an unusual manifestation ; moreover , pof occured without the involvement of other internal organs . 
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