ESPE Abstracts

Case presentation: We recently started a 9-year-old girl with hypoparathyroidism due to a mutation in the PTH gene on a pump therapy with 1–34 rhPTH. She has received calcitriol and calcium since the age of 4 months. Bilateral nephrocalcinosis stage II/III was diagnosed at a young age. So far, her renal function remains normal. During the last 18 months symptomatic hypocalcemic episodes have become more frequent despite increased calcium and calcitriol doses. Continuous r...

Background: MODY is monogenic. About 1% of diabetes has a monogenic cause but is frequently misdiagnosed as DM1 or DM2.Objective and hypotheses: It is important to study family history of patients with atypical diabetes forms for verification of diagnosis and prognosis.Method: Genetic, biochemical and hormonal testing, 2 patients were examined.Results: At pre-school medical examination a general practitioner ...

Background: The degree of suppression of the pituitary-ovarian axis in girls with central precocious puberty (CPP) under GnRH analogue (GnRHa) treatment is usually assessed at pituitary levels. However, the extent of ovarian function suppression under GnRHa treatment has not been evaluated.Objective: To evaluate ovarian activity in CPP girls before and during treatment with GnRHa.Patients and methods: In this prospective study, 11 ...

Backgrounds/Aims: Studies related to changes in thyroid hormone metabolism in the course of chronic liver diseases have been conducted mostly in adults. In this study, we aimed to investigate the thyroid dysfunction in childhood chronic liver diseases.Methods: Between 2005 and 2018, 960 chronic liver disease patient file that followed in our gastroenterology department are reviewed. Among all study subjects, 107 (53 fema...

Introduction: The most common causes of hyperthyroidism in the pediatric age group are autoimmune conditions (Graves' disease or Hashitoxicosis). Hyperfunctioning thyroid carcinomas are rarely reported. In this case report, we present a 17-year-old girl who was diagnosed with papillary thyroid carcinoma upon testing for hyperthyroidism.Case: A 17-year-old girl had presented to another center with a 1-month history of...

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...

Introduction: Graves' disease is the most common cause of hyperthyroidism in children and adolescents, characterized by development of stimulant antibodies against thyrotropin (TSH) receptors. Environmental and genetic factors are thought to be responsible in triggering autoimmunity.Materials and Methods: Twenty-nine cases, with Graves' disease diagnosed in Pediatric Endocrinology clinic between January 1999 and ...

Introduction: Various types of mutations in GHRHR cause isolated growth hormone deficiency type 1B. Here, we report the clinical features associated with deletion of whole GHRHR gene for the first time.Case: A four-year–and-nine-month-old otherwise healthy girl was admitted due to short stature. She was born at term with a birthweight of 3750 gr. Her height velocity slowed down after 2 years of age. The mother (157.8 cm, −0.8...

Introduction: Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease. It is characterized by impaired estrogen production, increased gonadotropins, and ovarian cysts. Herein, we report a clinical phenotype of the virilized female due to a novel compound heterozygous mutation in CYP19A1.Case report: A 4-month-old girl was referred due to cliteromegaly. Her mother had developed acne, hair loss,...

Introduction: High doses of biotin are reported to cause incorrect results in various immunoassays in some patients. However, there is no systematic study regarding biotin interference in childhood.Aim: To assess thyroid function with different methods in subjects with biotinidase deficiency, to determine the factors causing interference, and to investigate the efficiency of the methods for overcoming interference.Method: The study...