Growth Against the Clock: Hormonal Therapy in Late-Diagnosed Mosaic Turner Syndrome
https://doi.org/10.15605/jafes.041.S1
- Author:
Asma’ Mohd Nazlee
1
;
Dorothy Maria Anthony Bernard
1
;
Siti Sanaa Wan Azman
1
;
Siew Hui Foo
1
Author Information
1. Endocrinology Unit, Internal Medicine Department, Hospital Selayang
- Publication Type:Journal Article
- MeSH:
Turner Syndrome
- From:
Journal of the ASEAN Federation of Endocrine Societies
2026;41(S1):100-101
- CountryPhilippines
- Language:English
-
Abstract:
Introduction:Short stature and delayed puberty characterize Turner
syndrome (TS). The 2024 international clinical practice
guidelines recommend growth hormone (GH) for latediagnosed patients if epiphyses remain open. For patients
with remaining growth potential, initiating GH alongside
low-dose estrogen effectively balances linear growth with
the need for timely pubertal induction.
Case:A 15-year-old female, born prematurely at 6 months
gestation, presented with delayed puberty, primary
amenorrhea, and short stature. Examination revealed a
height of 122 cm (<5th percentile), weight of 26 kg, with
no syndromic facies, and Tanner stage 1. Investigations
confirmed hypergonadotropic hypogonadism. Metabolic
screening, including thyroid, renal, and liver profile, was
normal. Her baseline insulin-like growth factor 1 (IGF-1) was
low at 117.5 ng/mL (127.5–541.5). Karyotyping confirmed
mosaic TS (45,X/46,Xr). Her skeletal bone age was delayed
at 12 years, indicating a viable window for linear growth
prior to complete epiphyseal fusion.
Subcutaneous GH was initiated at 0.3 mg up titrated to
1.2 mg (0.45 µg/kg) daily over 4 weeks, then 1.35 mg (50
µg/kg) daily at month 5. Low-dose oral estradiol (0.5 mg
three times weekly) was introduced for pubertal induction
at month 4. After 9 months of combined GH and estrogen
therapy, the patient achieved a height increment of 6 cm,
reaching 128 cm without an adverse event. To achieve the
clinical target of a 10–15 cm increment in the first year,
her GH dose was further increased to 1.50 mg (55 µg/kg)
daily. She showed an appropriate biochemical response
with IGF-1 increased to 40.2 nmol/L (16.4–67.8) with a total
height gain of 6 cm over the first 9 months of GH therapy.
Conclusion:Concomitant GH and estrogen therapy in late-diagnosed
TS successfully induced clinically significant height gain.
This dual approach maximized the limited window for
linear growth, without delaying pubertal induction and
compromising patient’s psychosocial well-being.
- Full text:2026080416354460130EP_A145.pdf
