This is a 13 year old Asian girl who came to the clinic with her mother bec of short stature (4ft 4 inches, mother 5ft 2, father 5 ft 8 ). A week prior , they did US of pelvis , reported as possible uterine agenesis.We are doing MRI now to confirm findings. Bone age: 105 months(vs her chronological age of 162 months).difference is >2SD based on the patients age and sex. epiphyseal plates open.
LH 24.01ml/uml, FSH 90.46 ml/uml, estradiol 7 pg/ml tsh irma 18 ;freet4 ria 17;8am cortisol 199.
NO signs of thelarche, no onset yet of secondary sex characteristics.
Will she benifit from GH? Can we immediately start T4? Thanks so much for your input. Lynn Bilar, MD
Unfortunately, this sounds like a much more complex case than I can handle adequately by e-mail. An initial question is whether or not this patient has Turner syndrome, which would explain the high gonadotropin levels, and short stature, but not the uterine agenesis. She certainly needs a Karyotype done to look not only for XO Turner's but for the rarer variants as well. If, indeed, she has Turner syndrome, then she qualifies for growth hormone therapy and you need do no further testing.
As far as her thyroid status is concerned, I would want to know why she has an elevated TSH and so would do anti-thyroglobulin Abs, and anti-thyroid peroxidase Abs. I am assuming that the free T4 is in
pmoL/dL and is normal- what is the normal range for your lab? As you may know, there is an increased risk of autoimmune thyroid disease in patients with Turner syndrome. I would see no reason not to treat her for this- it could certainly be contributing to her short stature and delayed bone age.
Should she have Turner syndrome, then there are many other aspects that need to be explored- cardiac, renal, learning, etc and she needs counselling. Patients with Turner syndrome can die from rupture of an aortic aneurysm, particularly those with undiagnosed coarctation of the aorta. They are also at risk of horseshoe kidney. If she does not have Turner syndrome and she, indeed, has neither a uterus or gonads, she needs renal fx evaluated. She may have a rare genetic abnormality in one
of the transcription factors necessary for genito-urinary development. In either case, it sounds like she needs a sophisticated pediatric endocrine and/or genetic evaluation, and not one that is best handled by
e-mail. I hope that this is helpful to you. I would be most interested in learning about what you find. Rosalind S. Brown MD,