Endocrine Abstracts

Introduction: Turner Syndrome (TS) is the most common chromosomal abnormality affecting phenotypic females. Short stature (SS) is one of the most consistent clinical features of TS, with consequent poor psychosocial outcomes. Management involves early diagnosis and administration of recombinant human growth hormone (rhGH). The cost of therapy however hampers treatment in resource-challenged regions. The objective of this presentation is to report the outcome and challenges of rhGH therapy in maximizing the height of patients with SS, in Nigeria, a resource-challenged setting.

Case presentation: An 18-year-old schoolgirl presented to the endocrine clinic on account of short stature and failure to attain menarche. Childhood developmental milestones and academic performance were normal. Past medical and surgical history was unremarkable. She withdrew from high school as a result of stigmatization from her peers. General examination revealed scanty axillary and pubic hairs. Her height was 1.37m, Weight: 33 kg, BMI: 17.6 kg/m², and arm span: 1.35m. Breast development was Tanner stage 1 with widely spaced nipples. Radiograph of left wrist showed bone age 11 years. Abdominopelvic ultrasound showed a hypoplastic uterus. Her blood tests showed elevated Follicle stimulating and Luteinizing hormone levels with reduced Serum oestradiol. Her karyotype was 45XO. A diagnosis of short stature secondary to Turner syndrome with hypergonadotropic hypogonadism was made. She was commenced on SC Growth hormone 1.62 mg four times weekly and also oestradiol therapy. Treatment was intermittently affected by financial constraints and poor supply chain due to Covid-19 pandemic. Her current height after 2 years of follow-up was 1.50m. She was then able to resume her academic pursuits.

Conclusion: Early initiation of HGH in short stature improvesgrowth and allows appreciable progression to adult height, leading to enhanced quality of life. The high cost of rhGH (about £560 monthly) impairs effective management in resource-challenged regions like Nigeria where minimum wage is £58 monthly.