ESPE Abstracts

Background: Biallelic QRSL1 mutations cause mitochondrial “combined oxidative phosphorylation deficiency-40” (COXPD40). COXPD40 has been reported invariably lethal in infancy. Adrenal insufficiency was weakly reported and investigated among seven previously reported patients with COXPD40.Objective: We report clinical, biochemical, molecular, and functional characteristics of a patient with adrenal in...

Introduction: IMAGE Syndrome (#614732) is an autosomal dominant inherited syndrome as a result of CDKN1C mutation characterized by the association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. Here, long-term follow-up of a case with clinical IMAGE syndrome, no genetic mutation was detected, will be presented.Case: A three-month-old baby boy was brought wi...

Aim: In this study, we investigated whether there was a relationship between prolactin hormone (PRL), whose excess levels lead to infertility, and expression of Kisspeptin (Kiss1), Neurokinin (Tac2) and their respective Receptors.Material and Methods: In our study, 12-16 weeks old 40 female Wistar Albino rats were classified into three groups; control group (n=10), physiological saline (SF) (n=1...

The stimulants that the mother is exposed during pregnancy may affect the baby in the future. Electromagnetic field exposure is an important external stimulus that we are subject to. In addition to the interaction of the earth and the sun with the magnetic field of man; nowadays the intensive use of electrical appliances, computers, mobile phones and internet, how electromagnetic field exposure may affect future generations will only occur in the continuation of our generation...

Introduction: APECED Syndrome; is a rare, autosomal recessive disease caused by mutations in the autoimmun regulatuar AIRE gene on the chromosome 21. Although classical triad is mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency; endocrine / non-endocrine involvement may also be seen. Possible involvement should be evaluated without any clinical signs. We report a case of APECED syndrome with autoimmune hypophysitis secondary to growth hor...

Background: The variable presence of adrenal insufficiency (AI) due to hypocortisolemia (HC) in patients with thalassemia is well established; however, the prevalence of adrenocortical hypofunction (ACH) in the zona glomerulosa and zona reticularis of the adrenal cortex is unknown.Objective and hypotheses: To establish the prevalence of ACH, we examined the cortisol response to 1 μg- and 250 μg- ACTH tests, plasma aldosterone (A)/plasma renin a...

Objective: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in children. Early identification and management is crucial to prevent irreversible brain damage. CHI has a heterogeneous clinical presentation, histology and molecular biology. We aim to discuss the clinical characteristics and genotype–phenotype correlations of Turkish CHI patients from a single centre.Design and methods: A total of 15 patients with CHI were recr...

Objective: Subclinical hypothyroidism (SH) prevalence in the paediatric population is reported between 1.7 and 9.5%. Results of the adult studies on SH showed that long term SH had negative effects on atherosclerosis, dyslipidaemia, insulin resistance and cognitive functions. The decision about treatment of SH in paediatric patients is still a matter of debate. None of the consensus statements published about the management of SH addressed the issue of SH in the paediatric pop...

BMP4, a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily, is involved in the embryonic development of various organ and tissues including the cranio-facial structures, olfactory placode, pituitary, eyes, heart, and kidneys. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. BMP4 plays an important role in the embryonic development of the GnRH neurons ...

Congenital hyperinsulinemia occurs due to inappropriate insulin secretion from beta cells of the pancreas. It is the most common cause of resistant and recurrent hypoglycemia in neonates and infants and the threatment is very difficult. Although the incidence is reported as 1/50000, it is seen more frequently in consanguineous countries. Patients may present with lethargy, nourishment, irritability and seizures. If it is not treated, severe hypoglycemia may result in severe ne...