ESPE Abstracts

Central congenital hypothyroidism (central CH) refers to an inborn deficient thyroid hormone production due to insufficient pituitary TSH stimulation of an otherwise normal thyroid gland. Central CH may be part of combined pituitary hormone deficiencies (CPHD) (60%) or may occur in isolation. The most common cause of CPHD consists of a characteristic pituitary malformation referred to as pituitary stalk interruption syndrome. Up until 2012 most cases of isolated central CH rem...

The source of hyperandrogenism can be adrenal, gonadal, mixed or exogenous. The reason of excessive androgen secretion for age can be primarily gonadal/adrenal or it could be secondary to trophic stimulation (LH, hCG, ACTH, insulin, IGFs). Clinical signs of hyperandrogenism in children include virilization (clitoral hyperplasia, labial fusion, even unclear sex in a newborn), premature pubarche, premature penile growth, accelerated linear growth, increased musculature, acne and...

Background: Hypoglycaemia is a common metabolic condition affecting up to 15% of all neonates and 50% of neonates with risk factors including diabetic mothers, large or small for gestational age, perinatal stress, or prematurity. It is well known that severe and prolonged hypoglycaemia, as commonly seen in congenital hyperinsulinism, can lead to brain injury. However, data on the effect of mild neonatal hypoglycaemia on neurodevelopment are limited. There is s...

Introduction and objectives: Imprinted genes have been broadly related to prenatal growth regulation. PEG10 is a maternally imprinted gene involved in cellular proliferation that is mainly expressed in the placenta and in some adult tissues. In mice, mutations in this gene have been related to growth restriction of both the embryo and the placenta. Nevertheless, its role in postnatal growth has not yet been established. We aimed to study prospectively the rela...

Background: Abnormal birth weight, either small- or large for gestational age, has been influenced on long term heath. Previous data demonstrated small for gestational age infants have greater risk for developed obesity and metabolic diseases later in life but little was known in large for gestational age (LGA) babies.Objective: To study the growth pattern of children born large for gestational age from birth until age o...

Background: To update the ongoing debate about the use of universal strict vs (local) national intrauterine growth charts, we compared the prevalence of small and large-for-gestational-age (SGA/LGA) infants according to international charts and national growth data.Methods: We classified singleton births from 33 to 42 weeks of gestation in 2016 and 2019 from Qatar (n = 92431), SGA (birthweight <10th percentil...

Background: Thyroglobulin (Tg), a protein synthesized uniquely in the thyroid gland, may be elevated in primary congenital hypothyroidism (CH) due to increased TSH drive, absent in true athyreosis and Tg deficiency, and very elevated in some types of dyshormonogenesis.Hypothesis: Serum Tg at the time of newborn screening may reflect the amount of thyroid tissue present in apparent athyreosis and thyroid ectopia, and henc...

Neonatal hypoglycemia is the most common endocrine abnormality in children, which is associated with increased morbidity and mortality. The burden and risk factors of neonatal hypoglycemia in Qatar are suggested to be high because of the high prevalence of gestational diabetes.Objective: To determine the incidence of neonatal hypoglycemia in Qatar in relation to the etiology (infants of diabetic mothers (IDM) vs infants of nondiabetic mo...

Background: Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and is predominantly caused by developmental abnormalities known as thyroid dysgenesis (TD). Several transcription factors have been described in its aetiology, but defects in the known genes only account for a small proportion of cases.Methods: To identify novel genes involved in TD, we performed exome sequencing in 7 unrelated ...

Background and Objective: Congenital hypothyroidism (CH) is mostly detected with neonatal newborn screening (NBS). CH is the most common neonatal endocrine disorder with an incidence of 1:2,000-1:4,000. However the molecular etiology is sill poorly understood, considering pathogenic variations in candidate genes have been found only in 10-20 % of CH. We performed mutations screening of causative genes through a systematic Next Generation Sequencing (NGS) a...