ESPE Abstracts

Background: Short stature is a common presentation in pediatric endocrinology and its etiologies encompass non-endocrine factors, endocrine disorders, and normal variations. Growth failure can serve as an alarmingly subtle indicator of underlying severe diseases, sometimes obfuscating multiple causative factors. Understanding the complexities involved in evaluating growth failure in the presence of chronic conditions is crucial for efficient management. This case highlights the diagnostic challenges encountered in a patient presenting with short stature alongside coexisting chronic illnesses.

Case presentation: A 16-year-old Romanian male previously diagnosed with spherocytosis at eight months of age, presented to our clinic with a primary complaint of short stature. However, additional findings such as hepatosplenomegaly, jaundice, alopecia, severely dehydrated skin, hoarse voice, bradylalia, and bradycardia were also observed. Anthropometric measurements revealed a stature of 154 cm (-3.04 standard deviations) and a weight of 56.6 kg (-0.57 standard deviations). The ultrasound examination unveiled a small thyroid volume, with heterogeneous echostructure and echogenic septations. Cardiac echography indicated a left ventricular ejection fraction of 40-45% and minimal pericardial fluid. The testicular echography unveiled a substantial presence of bilateral fluid accumulations, suggestive of hydrocele, within a testicular volume of 15 cm3 characterized by a homogeneous echostructure. Additionally, penoscrotal concealment was observed, attributed to the influence of scrotal fluid. Laboratory tests confirmed severe hypothyroidism (TSH>60 uUI/ml, FT4=0.16 ng/dl) and severe hemolytic anemia (Hb=6.9 g/L) requiring multiple transfusions. The wrist X-ray revealed a bone age delay of 4 years and 9 months. Notably, the symptoms of hypothyroidism were concealed by the patient's chronic illness, highlighting the complexity of evaluating growth failure in patients with coexisting chronic conditions. The patient was treated with levothyroxine, beginning at 100 mg (1.76 mg/kg) and gradually increasing to 140 mg (2.74 mcg/kg) over a six-month period. Following treatment, the patient's height increased by 3.5 cm, reaching 157.5 cm (-2.7 SD), with a growth velocity of 8 cm per year. Subsequent evaluations revealed improvements in mental status, bradylalia, bradycardia, skin, and hair.

Conclusion: The intricacies of evaluating growth failure in the presence of chronic conditions necessitate comprehensive investigations for timely diagnoses. This captivating case emphasizes the vital role of early detection and prompt intervention, as it can substantially influence the prognosis of patients with short stature and coexisting chronic illnesses. An improved understanding of these complexities will aid in optimizing patient outcomes and shaping future management strategies.