Endocrine Abstracts (2012) 28 P87

Charge syndrome - easily missed as it presents to multiple specialties

Amar Bhat, Anupam Brahma & Adrian Jennings


Department of Endocrinology, Queen Elizabeth Hospital NHS Foundation Trust, King's Lynn, United Kingdom.


A 20 year old male presented with short stature (height below 3rd centile for age since aged 13 years) and lack of secondary sexual characteristics. Past history included repaired Fallot’s Tetralogy, sensorineural deafness, repaired cleft lip and palate, learning difficulties, possible unilateral coloboma, and surgery for undescended testes. There was no significant family history. Clinical examination revealed a BMI of 22.7 (height 1.68 m, weight 64 kg). He had a narrow face with a broad nasal tip and evidence of rhinoplasty, deep set eyes with synophrys, a dysplastic right ear and small testicles (1 ml volume). His sense of smell was normal. Investigations revealed serum testosterone 3 nmol/L (NR 6.3–27.2 nmol/L), prolactin 294 mU/l (NR 41–581 mU/l), LH 0.8 IU/L, FSH 4.8 IU/L. Thyroid function tests were normal (FT4 19.1 pmol/L, TSH 1.36 mIU/L). The short synacthen test revealed a normal response (peak cortisol 884 nmol/L) and the Growth Hormone response to Glucagon was also normal (peak GH of 17.9 mcg/L). MRI of pituitary and hypothalamus was normal and DEXA scan revealed a T score of −3.3 for the lumbar spine and −2.1 for the hip. Genetic testing revealed a normal chromosome analysis and normal 22q11 FISH result. The original description of CHARGE syndrome included coloboma, heart defects, atresia of the choanae, retardation of growth or development, genitourinary abnormalities and ear abnormalities or deafness. This case demonstrates numerous features compatible with CHARGE syndrome. Genetic testing has been requested but 33% of cases do not have the CHD 7 mutation on Chromosome 8. In idiopathic hypogonadotrophic hypogonadism one should look for ear and ocular defects, and the diagnosis of CHARGE syndrome should be considered.

Declaration of interest: There is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.

Funding: No specific grant from any funding agency in the public, commercial or not-for-profit sector.

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