ECE2016 Eposter Presentations Clinical case reports - Thyroid/Others (71 abstracts)
A girl with Cornelia de Lange syndrome with good response on GH therapy: case report
George-Sebastian Zmau 1 , Alina Daniela Beleceanu 1 , Cristina Rusu 2 , Elena Braha 1, , Maria-Christina Ungureanu 1 , Roxana Stefan 1 , Adina Manolachie 1 , Ioana Armasu 1 , Georgiana Constantinescu 1 & Carmen Vulpoi 1
1Department of Endocrinology, U.M.F. ‘Grigore. T. Popa’ Iasi, Iasi, Romania; 2Department of Genetics, U.M.F. ‘Grigore. T. Popa’ Iasi, Iasi, Romania.
Introduction: Cornelia de Lange Syndrome (CDLS) a relatively uncommon genetic disorder diagnosed mainly by clinical features: distinctive facial features, developmental delay, hirsutism, mental retardation and structural abnormalities. Most cases are due to spontaneous mutations (NIPBL on chromosome 5, SMC1A on X chromosome, and SMC3 on chromosome 10). Short stature in CDLS is due to GH deficiency and resistance.
Case report: We present a 9-year-old girl, B.A., which was addressed to the Endocrinology Department for growth retardation, with severe short stature (86 cm, −3 S.D.) and underweight (11.5 kg, −3 S.D.), delayed bone age (2 years), but normal GH profile. She was an only child of non-consanguineous marriage, naturally delivered on term, Apgar score of 8, small for gestational age (birth weight of 1850 g) and delays in milestones during development. Clinically diagnosed with Cornelia de Lange syndrome (CDLS) at the age of 3: low anterior hair line, bushy eyebrows meeting in mid-line, low set ears, maxillary hypoplasia, small hands, clinodactyly, and hypertrichosis. One year later, because of the stationary height, she was reevaluated for GH deficiency: GH was not stimulated (4.93 ng/ml), with low IGF1 (85.1 ng/ml, n: 49–283) and GH therapy was started. After 5 years of treatment she gained 38 cm (7.5 cm/year of treatment, actual height 124 cm, −2.9 S.D.), with ameliorated bone age (7 years).
Conclusions: CDLS has been characterized by small gestational age, growth retardation, distinctive facial dimorphism, primordial short stature, psychomotor delay, behavioral problems. Patients suffering from CDLS have a normal puberty but without growth spurt (final stature is approximately 155 cm in men and 133 cm in women). Despite the bKIGS data which did not find an apropriate response at GH treatment at short term, our patient showed a satisfactory growth velocity, probably due to the associated GH deficiency.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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