ESPE Abstracts

Background and aims. In several European countries, the incidence of primary congenital hypothyroidism (PCH) seems to increase in the last decade, especially in countries that have lowered the newborn screening TSH cutoff. In Flanders, two centers manage since 2012 the newborn screening for PCH and these maintained the same TSH assay (Delphia, Perkin Elmer) and cutoff (15 mU/l). We studied the current incidence and etiology of PCH and initiation of thyroxine treatment in Fland...

Background: Secondary forms of diabetes mellitus (DM) are underdiagnosed in children and adolescents with cancer because despite the whole body of evidence that asparaginase, steroids and total body irradiation increase the risk of developing DM, risk factors are missing and – asides from treatments – understudied (e.g., pre-existing obesity, sex, age, ethnicity, family history of DM). The objectives of our study were to assess the incidence and asso...

Background: Children with biallelic GHRHR gene pathogenic variants share a phenotype of growth failure starting in infancy and resulting in a proportionate short stature and bone age delay due to a complete isolated growth hormone (GH) deficiency. The genotype ranges from rare promotor mutations to the more frequent splicing mutations, some genotypes being specific to certain geographic areas. Diagnosis is mainly made around the age of 7 years and more often i...

We present the case of a 7-year-old female affected by permanent congenital hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome. The patient was born at 31+4 gestational weeks because of premature rupture of membranes. At birth her auxological parameters were adequate for gestational age with a 75th percentile head circumference. She was diagnosed with congenital hypothyroidsm (TSH 1016 mcu/ml, FT4 <0.4 ng/dl) with an in situ gland caused by a homozygous mutation...

Background: Thyroid function in preterm infants is often altered for various reasons. LBW or VLBW newborns frequently present a particular form of congenital hypothyroidism (CH) characterized by low FT4 and delayed TSH elevation. The incidence of this disease is 1:250 for VLBW babies and 1:1589 for LBW newborns. In this condition, neonatal screening based solely on TSH can miss the diagnosis, therefore some screening programs have proposed to repeat the screening te...

DICER1, a gene located on chromosome 14q32.13, encodes a protein ribonuclease (RNase) IIIb that plays a central regulatory role in miRNA processing. DICER1 syndrome has an autosomal dominant inheritance and predisposes affected individuals to a wide variety of tumors, both benign and malignant. We describe the case of a 6-year-old girl, carrier of a DICER1 germline mutation, and affected by a differentiated thyroid carcinoma. At the age of 6 a first thyroid ultrasound revealed...

Currently, the majority of patients with DSD do not have a molecular diagnosis. Although high throughput sequencing is having an impact on the clinical diagnosis of DSD the accurate interpretation genomic datasets of the identification of new gene mutations causing DSD is challenging. This is due to emerging evidence that DSD may be caused by mutations in many different genes and the prevalence of mutations in a single gene may be very low. As larger number of DSD patients are...

Background: A combination of GH and a GnRH agonist is sometimes used to improve adult height in children with a poor height prediction, only few studies support this.Study design: In this multicenter study, 24 short girls in early puberty, with a bone age below 12.0 years, an adult height prediction below 151.0 cm and normal body proportions were treated with GH (Zomacton) transjections 50 μg/kg per day and triptorelin (Decapeptyl) i.m. (3.75 mg/mon...

Background: Familial male-limited precocious puberty, known as testotoxicosis, is an autosomal dominant disease that leads to the activation of luteinizing hormone receptor. It presents with progressive virilization, advanced bone age and linear growth acceleration and may lead to loss in predicted adult height. We report the case of a patient diagnosed with testotoxicosis at two years of age.Case presentation: Two-year-old boy with penis enlargement and...

Case Report: A preterm boy was born at 35 weeks gestational age by cesarean section due to fetal macrossomia and polyhydramnios, weight 4980g (4.3 SDS, Intergrowth 21st), length 53cm (3.1 SDS), 1-min-Apgar 2. He needed resuscitation after birth, and his glycemia was 20 mg/dL. At the Neonatal Intensive Care Unit (NICU), he presented with severe hypoglycemia (10mg/dL) and required intravenous glucose infusion rate (GIR) 10mg/kg/min that increased progressively u...