283- A patient having TS presented with clitoromegaly. How to proceed further?
The presence of virilization in a patient with TS should raise the suspicion of
gonadoblastoma, as these tumors often present with virilization. In addition,
presence of Y chromosome material can cause virilization, even without the
development of gonadoblastoma. CECT abdomen to localize the tumor and
DNA studies/FISH to detect Y chromosome material are recommended in this
scenario. Absence of gonadoblastoma/Y-cell material merits evaluation for
other causes of virilization including adrenal or midline tumors. Administration
of oxandrolone as a growth-promoting therapy in patients with TS can also lead
to development of virilization.- How does estimation of serum FSH help in the diagnosis of TS?
Ovarian failure is one of the characteristic manifestations of TS, and acceler-
ated follicular atresia begins as early as eighteenth week of intrauterine period.
Biochemically, ovarian failure is characterized by raised FSH levels, with a
classical biphasic pattern. Serum FSH is elevated from day 3 of life till the age
of 5 years, followed by a decline to baseline and starts rising again after 10 years
of age. Therefore, estimation of serum FSH is complementary in the diagnosis
of TS from birth to 5 years and after 10 years of age. However, during the win-
dow period (5–10 years of age), estimation of serum FSH does not distinguish
between children with TS from healthy girls.- How to evaluate a patient with Turner syndrome?
All patients with TS require cardiac, auditory, ophthalmic, orthodontic, and
psychosocial evaluation. In addition, renal ultrasonography, thyroid function
tests and anti-tissue transglutaminase antibody are also recommended in these
patients. Fasting plasma glucose, lipid profile, liver function tests, and bone
mineral density should also be monitored in adult women with TS. These
parameters should be periodically reassessed, thereafter.- When to initiate recombinant human growth hormone (rhGH) in patients with
Turner syndrome?
Short stature is virtually present in all patients with TS, and rhGH therapy has
been shown to be safe and beneficial in these individuals. GH dynamic tests are
not required before initiation of rhGH therapy, as most of these patients have
normal response to GH dynamic tests and rhGH is indicated in these children
for improving their height potential, irrespective of GH status. However, higher
doses of rhGH are required for optimal height gain to overcome the chondro-
cyte resistance in patients with TS as compared to individuals with isolated GH
deficiency. In addition, rhGH therapy in children with TS also improves the
facial features as well as the peak bone mass. Therapy with rhGH should be8 Turner Syndrome