ESPE Abstracts (2014) 82 P-D-3-3-848

Severe Short Stature with Features of Achondroplasia, Later Diagnosed as Panhypopituitarism: a Case Report

Cristina Mateia, Maria Karama & Catherine Petersb

aEast and North Hertfordshire NHS Trust, Stevenage, UK; bGreat Ormond Street Hospital NHS Trust, London, UK

Background: Severe short stature is considered when height falls below −4 SDS. When infants with extreme short stature are evaluated, often multidisciplinary input is required, before a formal diagnosis is met.

Objective and hypotheses: We want to learn from delayed diagnosis of child with panhypopituitarism and review subsequent difficulties in starting GH treatment.

Method: Retrospective review of notes, investigations and patient clinical progress.

Results: Our patient was born at 31 weeks gestation with birth weigh of 1.935 kg. During follow-up it became gradually apparent that he was short. At 8 months, his weight was 5.2 kg and length 55.5 cm both −5 SDS with head circumference 44.5 cm on 50th centile. His disproportionate skeletal appearance was suggestive of achondroplasia. His skeletal survey reported osteopenia, hence hypothyroidism was suspected. At age 10 month his thyroid function showed a TSH 1.13 IU/l and a free T4 of 3.6 pmol/l, suggestive of secondary hypothyroidism. Synacthen test demonstrated an inappropriate response and hydrocortisone treatment was started. MRI brain demonstrated a small anterior pituitary and his IGF1 was low. He was considered GH deficient, but this could not be more clearly demonstrated as GH stimulation was considered unsafe. As a consequence, funding for GH was refused by local services. Due to recurrent severe hypoglycaemia GH treatment was finally initiated, which resolved the hypoglycaemic episodes.

Conclusion: No screening programme is perfect and in this case was falsely reassuring. Thyroid function should be checked in all cases of short stature. Funding for GH treatment can be difficult to obtain from commissioning groups if need not clearly demonstrated by dynamic testing. However, medicine is an art as well as science and each patient has to be treated individually.

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