Endocrine Abstracts

Introduction: Septo-optic dysplasia (SOD) is characterised by a classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects. Growth in children with SOD can be affected by multiple factors such as endocrinopathies, associated genetic and chronic medical conditions. Children with SOD can also present with precocious or delayed puberty.

Aim: We aimed to review data on growth, endocrinopathies and MRI findings in children with SOD in whom GnRHa were used.

Methods: We accessed electronic medical records of children with SOD in whom GnRHa (Triptorelin, Gonapeptyl or decapeptyl) was used. We collected data on their height, BMI, endocrinopathies and MRI findings.

Results: 21 children (8 M, 13 F) met the inclusion criteria. Girls were commenced on puberty blockers at a median age of 8.6 years whereas boys were started on puberty blockers at a median age of 10.6 years. Puberty blockers were stopped at around the same time in both (13 years for boys and 12.98 years in girls). The median height SDS of boys improved significantly from -0.57 SDS to 2.01 SDS at the last visit. However, the height SDS worsened after the use of puberty blockers amongst girls (-0.3 VS -1.5 at last visit). No significant change in BMI was noted amongst both the sexes. Puberty blockers were stopped in 18 patients and all of them underwent spontaneous puberty except one girl who required sex steroids. Six males (75%) and eight females (61 %) presented with multiple pituitary endocrinopathies. Similarly, 50% (n = 4/8) of males and 53% (n = 7/13) of females had a small anterior pituitary gland on MRI scan.

Conclusion: Puberty blockers were used in girls more frequently and for longer duration than boys possibly because the incidence of precocious puberty in girls is higher than in boys in SOD. Height prospects were better in boys than in girls treated with puberty blockers.