Linear growth and endocrine function in patients with ataxia telangiectasia; a cohort of 13 patients in Qatar

Mohammad Ehlayel; Ashraf Soliman

doi:10.1530/endoabs.37.EP95

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Endocrine Abstracts (2015) 37 EP95 | DOI: 10.1530/endoabs.37.EP95

ECE2015 Eposter Presentations Steroids, development and paediatric endocrinology (36 abstracts)

Linear growth and endocrine function in patients with ataxia telangiectasia; a cohort of 13 patients in Qatar

Mohammad Ehlayel ^1, & Ashraf Soliman ^1,

Err

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¹Hamad Medical Centre, Doha, Qatar; ²Weill Cornell Medical College, Doha, Qatar.

Introduction: Ataxia telangiectasia (AT) is a rare, genetic, primary immune deficiency disease characterised by immunodeficiency and neurological manifestations, with increased tendency to infection, malignancy, and autoimmune diseases. Both growth delay and endocrine abnormalities are occasionally reported in these patients.

Aim: To study linear growth in relation to endocrine and immune functions in a cohort of children with AT.

Patients and methods: We studied growth parameters (height (Ht), weight, BMI and measured the HtSDS) of 13 patients (age 7.7±3.5 years) with AT in relation to their mid-parental HtSDS. We measured their biochemical (serum calcium (Ca), phosphorus (PO₄), alkaline phosphatase (ALP), alanine transferase (ALT), ferritin, creatinine and albumin), endocrine (free thyroxine (FT₄), TSH, IGF1, 8 AM cortisol) and immune functions (IgG, IgM and IgA antibodies). Growth data were correlated to hormonal and immune data.

Results: Presented in table.


	HtSDS	BMI (kg/m²)	MPHtSDS	IGF1 (μg/l)	FT₄ (pg/ml)	TSH (mIU/l)	Anti TPO (U/ml)	Albumin (g/l)	ALT (U/l)	Ferrtin (μg/l)
Mean	−1.4	15.1	−1.3	149.0	15.2	7.3	88.7	39.2	42.2	324.0
SDS	1.2	2.4	1.1	110	3.8	13.6	131	7.2	24.2	606.3
No=	13.0	13.0	13.0	8.0	13.0	13.0	13.0	13.0	13.0	9.0
Abnormal	22%	31%	38%	31%	38%	15%	31%	15%	15%	38%

All patients had normal renal function. Thirty-one percent of patients with AT had short stature (HtSDS <−2). However, their MPHtSDS denoted that their short stature is familial as 4/13 had MPHtSDS <−2. They had low BMI and two of them had low serum albumin and IGF1 denoting malnutrition. Low IGF1 (IGF1 SDS <−1.5) can be explained in part by under- nutrition or disturbed GH secretion. Elevated serum ALT and ferritin in some patients suggest immune-related inflammation in the liver. Thirty percent of patients had high TSH, two of them had low FT₄ diagnosing clinical (15%) and sub-clinical (15%) hypothyroidism. Anti-peroxidase antibodies were high in 2/13 denoting immune-related thyroid aggression. 8/13 had vitamin D deficiency (<20 ng/ml) however, their serum Ca and PO₄ levels were normal. One adolescent girl (14.5 years) had hyper-gonadotropic hypogonadism (low estradiol and high FSH) All patients had normal AM cortisol. None of the growth parameters were correlated with the immunoglobulin (IgG, IgM or IgA) levels.

Summary: Patients with AT had high prevalence of growth delay and endocrine dysfunction in the form of low IGF1 clinical and subclinical hypothyroidism and hypogonadism. Early diagnosis and management of these endocrinopathies is important or improving the prognosis of the disease.