Cardiovascular Journal of Africa: Vol 30 No 2 (March/April 2019)

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CARDIOVASCULAR JOURNAL OF AFRICA • Volume 30, No 2, March/April 2019 AFRICA e7
Case Report
Laron syndrome related to homozygous growth hormone
receptor c.784>C mutation in a patient with hypoplastic
pulmonary arteries
Ayşehan Akıncı, Cemşit Karakurt, Vivian Hwa, İsmail Dündar, Emine Çamtosun
Abstract
Laron syndrome, also known as growth hormone insensitiv-
ity, is an autosomal recessive disorder characterised by short
stature due to mutations or deletions in the growth hormone
receptor (GHR), leading to congenital insulin-like growth
factor 1 (IGF1) deficiency. Cardiac abnormalities, such as
patent ductus arteriosus or peripheral vascular disease are
rare in patients with Laron syndrome, but cardiac hypertro-
phy has been observed after IGF1 therapy. In this report, we
present a 10-year-and-5-month-old girl with severe peripher-
al-type pulmonary artery hypoplasia and Laron syndrome
related to homozygous GHR c.784>C mutation.
Keywords: Laron syndrome, hypoplasia, pulmonary arteries
Submitted 30/11/18, accepted 7/1/19
Published online 22/1/19
Cardiovasc J Afr 2019; 30: e7–e8
DOI: 10.5830/CVJA-2019-002
Laron syndrome, also known as growth hormone-insensitivity
syndrome, is an autosomal recessive disorder characterised
by short stature and caused by mutations or deletions in the
growth hormone receptor (GHR), leading to congenital insulin-
like growth factor 1 (IGF1) deficiency.1 Patients with Laron
syndrome have low IGF1 levels despite normal or increased
levels of growth hormone, and exogenous growth hormone does
not induce an IGF1 response or restore normal growth, due to
dysfunction of the GHR.2,3
Clinical findings of Laron syndrome are short stature,
delayed bone age, blue sclerae, hip degeneration, delayed bone
maturation, and the absence of bone dysplasia and chronic
diseases. Cardiac abnormalities are rare in patients with Laron
syndrome, but cardiac hypertrophy may be seen after IGF1
therapy.4,5 In this report, we present a 10-year-and-5-month-old
girl with severe peripheral-type pulmonary artery hypoplasia
and Laron syndrome related to homozygous GHR c.784> C
mutation.
Case report
A follow-up 10-year-old girl was admitted to our hospital’s
department of paediatric cardiologyandpaediatric endocrinology
due to severe peripheral-type pulmonary artery hypoplasia and
Laron syndrome. Her weight was 11.2 kg ( < 3rd percentile) and
height was 88.2 cm (< 3rd percentile). The patient’s age was 10
years and five months but her height was age two years and one
month.
Physical examination revealed short stature, delayed pubertal
signs, thrill at the suprasternal aspect, 4/6 systolic ejection-type
murmur at the left upper sternal border and 3/6 systolic ejection
murmur at the left lower sternal area. An ECG showed right-axis
deviation and right ventricular hypertrophy. Echocardiographic
examination showed right ventricular hypertrophy, tricuspid
valve insufficiency and severe bilateral pulmonary artery
hypoplasia. Right ventricular systolic pressure was calculated at
135 mmHg according to the tricuspid insufficiency.
From laboratory test results, the growth hormone level was
> 40 ng/ml (0.1–2.2) and IGF binding protein-3 (IGFBP-3)
level was < 0.500 µg/ml (1–10). Previously, IGF1 treatment had
been given to the patient for three years (between ages four and
seven) but her height remained below the third percentile (SDS
–9 to –7.5). At the age of seven the growth hormone therapy was
stopped.
Genetic analysis showed a homozygous GHR c.784> C
mutation. Previously, the same mutation was detected by Akıncı
et al.6 in a patient in our hospital and we realised that this patient
was a relative of the one presented in this report.
Cardiac catheterisations four years earlier (Fig. 1) and
at the age of 10 years (Fig. 2) revealed severe pulmonary
artery hypoplasia. Right ventricular systolic pressure was
measured at 122 mmHg and pulmonary artery pressure was
120/60–96 mmHg. The patient was deemed inoperable by the
cardiovascular surgeons after the first cardiac catheterisation;
however the second angiography showed the pulmonary arteries
had improved slightly. Our surgeons therefore planned patch
augmentation for the hypoplastic pulmonary arteries.
Department of Paediatric Endocrinology, Faculty of
Medicine, Inonu University, Malatya, Turkey
Ayşehan Akıncı, MD
Cemşit Karakurt, MD,
İsmail Dündar , MD
Emine Çamtosun, MD
Cincinnati Center for Growth Disorders, Cincinnati
Children’s Hospital Medical Center, Cincinnati, USA
Vivian Hwa, MD