Short stature and an interesting association
A 7-year-old girl presented with complaints of growth failure and constipation since last 1 year and regular vaginal bleeding for last 6 months which was reassured by their family physician as normal variant of early menarche. Mother has not noticed any breast development or abnormal hair growth. She was also found to have decreased physical activity, excessive sleepiness, easy fatiguability, lack of interest in interaction with family members and deteriorating performance at school. There was no history suggestive of any intra cranial mass, head trauma or receiving radiation therapy and hormonal drugs in the past. She was first born to non-consanguineous parents, without any significant family history or any medical illness. She was a developmentally normal child, with good scholastic performance. The other sibling is normal who was 3 years younger but still taller than her.\nPhysical examination revealed pallor, expressionless face, coarse facies, facial puffiness, short neck [] and short stubby fingers []. There was no thyroid enlargement. Tanner staging was pre pubertal with just palpable breast buds, no axillary or pubic hair and without any enlargement of external genitalia. Examination of abdomen demonstrated diffuse distention with palpable fecal mass. Anthropometry values showed height and weight less than the 3rd centile, body mass index was 20 and upper segment: Lower Segment ratio was 1:1.1. Investigations showed microcytic hypochromic anemia with a hemoglobin level of 7.5 g/dl, Thyroid Stimulating Hormone >150 μIU/ml (0.35-5.5), T4 <0.01 ng/ml (4.5-12.6), Follicle Stimulating Hormone 8.32 mIU/ml (0.3-2) and Leutenizing Hormone 0.05 mIU/ml (0.1-6). Her radiological investigations revealed a bone age corresponding to 5 years. Ultrasonography of the pelvis showed enlarged ovary on the left side with multiple follicles in both the ovaries. Endocrinologist opinion was sought and she was started on Sodium levo thyroxin. After 2 weeks of treatment with thyroxine replacement therapy, she had dramatic improvement with resolution of constipation and cessation of menstrual cycles. She was found to be cheerful and active, during her review after 3 months.