ESPE Abstracts

Objective: Congenital isolated thyrotropin (TSH) deficiency is a rare condition due to autosomal recessive defects in TSHβ, TBL1X, IGSF1, TRHR genes. There are a few patients described with TSHβ mutations to date. These patients display the typical manifestations of severe untreated congenital hypothyroidism. Most patients are unrecognized, even in newborns screening settings due to unelevated TSH levels, which results in severe growth fail...

Background: AHDS is a devastating disease caused by defects in the thyroid hormone (TH) transporter MCT8. Endocrine expression is heralded by systemic hyperthyroidism with elevated serum T3, mildly increased TSH and decreased T4. However, the brain is hypothyroid, causing severe psychomotor retardation. Therapeutic attempts with PTU+levothyroxine or the T3-analogue DITPA could normalize TH derangements but without any neurological improvement. ...

Background: The IGF1 receptor (IGF1R) gene is located on the distal long arm of chromosome 15 (15q26.3). Heterozygous inactivating mutations of the IGF1R gene cause intrauterine and postnatal growth failure and mental retardation.Objective: The purpose of this research is to determine the most effective GH treatment for patients with IGF1R haploinsufficiency due to heterozygous deletion.Method: We investigated the clinical course o...

Background: Congenital hyperinsulinism (CHI) causes severe hypoglycaemia in children. Diazoxide and daily octreotide injections are first and second-line of treatment for CHI respectively. Diazoxide can cause severe hypertrichosis resulting in parental anxiety and compliance issues.Objective and hypotheses: To evaluate the efficacy, safety and pharmacokinetics of Lanreotide therapy in CHI patients.Method: Patients >6 months of ...

Bile acids (BA) are C24 steroids synthesized from cholesterol in liver. Originally, they were mainly considered to function as emulsifiers supporting resorption of lipophilic food compounds and excretion of metabolic products. Recently, their additional biological and endocrine functions in the regulation of metabolism have aroused interest of researchers. In contrast to BA in blood, it is surprising that hardly any data exist on BA in the most accessible human biof...

Introduction: Precocious pubarche (PP) is characterized by the early development of pubic hair and clitoral enlargement in girls. While commonly attributed to adrenal-related causes, such as congenital adrenal hyperplasia or adrenal tumors, ovarian sources are infrequent etiologies. In this report, we present a clinical case of a young girl with PP due to a rare source.Case Report: A 1.7-year-old girl presented with the ...

Intact steroid hormone biosynthesis is essential for growth and development of the human fetus and embryo. In the present study, gas chromatography-mass spectrometry was employed to characterize the steroidal milieu in amniotic fluid (n=65; male: female = 35: 30) of mid-gestation (median: 18.8th week, range: 16.0th – 24.6th week) by a comprehensive targeted steroid hormone metabolomics approach. The levels of 52 steroids i...

Introduction: Mutations in FGFR1, which is involved in formation and migration of neurons responsible for the production of gonadotropin-releasing hormones, may either cause isolated hypogonadotropic hypogonadism (HH) or Kallmann syndrome (KS). In addition, FGFR1mutations were reported in 2.7% of the cases with multiple pituitary hormone deficiency.Case: A 16-year-old male was referred to our clinic...

Background: Premature pubarche is a diagnosis of exclusion, and it is a benign period. Non-classic congenital adrenal hyperplasia (NC-CAH) is one of the most important causes in the differential diagnosis of premature pubarche.Objective and hypotheses: In this study it was aimed to evaluate the clinical and laboratory data, of 75 cases (five male, 70 female) diagnosed as premature pubarche. Additionally basal 17-hydroxyprogesterone levels determined as N...

Background: There is no agreement on the optimal treatment of children with vitamin D deficiency or insufficiency without obvious signs of rickets.Objective and hypotheses: To compare the efficacy and side effects of two different stoss therapy regimens (10 000 IU/kg and 300 000 IU vitamin D3) in children with vitamin D deficiency or insufficiency without rickets.Method: A total of ...