Rare Case: Empty Sella Syndrome, Growth Hormone Deficiency, and Hashimoto’s Thyroiditis in Thalassemia Spectrum
https://doi.org/10.15605/jafes.041.S1
- Author:
Athari Fadhila Namanda Putri
1
;
Eva Decroli
2
;
Dinda Aprilia
2
;
Alexander Kam
1
;
Yanne Pradwi Efendi
3
Author Information
1. Internal Medicine Department, Medical Faculty, Universitas Andalas;Endocrinology Metabolic and Diabetes Division, Internal Medicine Department, Medical Faculty, Universitas Andalas/ M. Djamil General Hospital
2. Endocrinology Metabolic and Diabetes Division, Internal Medicine Department, Medical Faculty, Universitas Andalas/ M. Djamil General Hospital
3. Internal Medicine Department, Medical Faculty, Universitas Andalas
- Publication Type:Journal Article
- MeSH:
Empty Sella Syndrome;
Growth Hormone;
Thalassemia;
Thyroiditis
- From:
Journal of the ASEAN Federation of Endocrine Societies
2026;41(S1):95-
- CountryPhilippines
- Language:English
-
Abstract:
Introduction:Thalassemia is a hemoglobin synthesis disorder
associated with chronic anemia and transfusion-related
iron overload, which predisposes patients to multiple
endocrine complications. Iron deposition in the pituitary
and gonads may result in growth hormone deficiency
(GHD) and hypogonadism. Empty sella syndrome (ESS),
characterized by herniation of the subarachnoid space into
the sella turcica, may also contribute to hypopituitarism.
The coexistence of thalassemia-related endocrinopathies,
ESS, and autoimmune thyroid disease is rare and presents
significant diagnostic complexity.
Case:A 27-year-old female with transfusion-dependent
thalassemia on deferiprone presented with secondary
amenorrhea and short stature. Her height was 145 cm
(below the target range of 140.5–157.5 cm), body mass
index 17.3 kg/m², and Tanner stage M3P1.
Laboratory evaluation revealed elevated thyroidstimulating hormone (10.92 mIU/L) with low-normal
free thyroxine 4 (11.4 pmol/L), consistent with primary
hypothyroidism. Thyroid ultrasound demonstrated features of chronic thyroiditis, and anti-thyroid peroxidase
antibodies (8.18 IU/mL) supported a diagnosis of
Hashimoto’s thyroiditis. Insulin-like growth factor-1
was markedly reduced (68 ng/mL), indicating GHD.
Morning cortisol was within normal range (14.5 µg/dL).
Gonadotropins were inappropriately low-normal (folliclestimulating hormone 7.42 mIU/mL, luteinizing hormone
11.41 mIU/mL) with low estradiol (26.49 pg/mL), suggesting
hypogonadotropic hypogonadism.
Skeletal survey showed thalassemia-related bone changes,
including trabecular coarsening and metaphyseal widening,
with a predicted adult height of 142.7 cm. Pituitary magnetic
resonance imaging revealed an empty sella.
Conclusion:Thalassemia must be recognized not only as a primary
hematologic condition but also as a complex multisystem
disorder with profound endocrine implications.
Furthermore, the co-occurrence of these conditions with
rare manifestations such as ESS and Hashimoto’s thyroiditis
underscores the diagnostic complexity faced by clinicians.
Therefore, early detection and rigorous, regular endocrine
screening are essential to optimize management strategies
and improve the long-term quality of life for patients with
thalassemia.
- Full text:2026080415581425428EP_A136.pdf
