ESPE Abstracts (2014) 82 FC11.5

Endocrine Features of a Large Cohort of Children with Septo-Optic Dysplasia and Congenital Multiple Pituitary Hormonal Deficiencies

Manuela Cerbone, Maria Güemes, Tessa Kasia & Mehul T Dattani

London Centre for Paediatric Endocrinology and Diabetes, University College London and Great Ormond Street Hospitals, London, UK

Introduction: Septo-optic dysplasia (SOD) is characterized by a combination of midline forebrain, pituitary and eye abnormalities. We aimed to evaluate endocrine features of patients with SOD, and multiple pituitary hormone deficiencies (MPHD).

Design: Retrospective data were collected from 130 patients: 102 SOD and 28 MPHD followed at a single tertiary centre. SOD were divided into two groups: with pituitary hormone deficiencies (SOD+, n=83) and with normal pituitary function (SOD−, n=19). To assess the degree of pituitary dysfunction the endocrine morbidity score (EMS) was calculated by attributing one point for each pituitary deficit presented.

Results: The first pituitary deficit occurred earlier in MPHD compared to SOD+ (P<0.03). The most prevalent hormonal deficiency in SOD+ was GH, whilst TSH and GH were most prevalent in MPHD. The EMS was significantly higher in MPHD (P=0.002). The prevalence of TSH deficiency was higher in MPHD compared to SOD+ (P=0.005). At diagnosis 11.6% of the SOD+ and 16% of the MPHD had high TSH concentrations (ranging between 6.8 and 16.1 mU/l). DI was the least frequent endocrinopathy in both groups. In three SOD+, DI evolved after the age of 7.3 years. Undervirilized external genitalia were present at birth in 27.5 and 35.7% of SOD and MPHD males respectively. Of patients who received an HCG test during minipuberty, MPHD showed lower 3 day and 3 week testosterone responses (P<0.05). Of those who underwent an LHRH test during minipuberty an LH response < 5 IU/l (P=0.003) and undetectable gonadotrophins (P<0.0008) were present more frequently in MPHD. 4.9% of SOD and 14.3% of MPHD required induction of puberty. Treatment for cessation of puberty was needed in 20% of SOD.

Conclusions: Our data suggest striking differences in endocrine features between SOD and MPHD patients. Further understanding of the aetiology and the natural history of these conditions may aid in their clinical management.

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