ESPE Abstracts

Background: Short stature homeobox-containing gene (SHOX) is located within the pseudoautosomal region 1 (PAR1) of the sex chromosomes. SHOX mutations and PAR1 deletions encompassing SHOX or its upstream/downstream enhancers have been identified in ~60% of Léri-Weill dyschondrosteosis (LWD) and ~5–15% of idiopathic short stature (ISS) patients. Recently SHOX duplications have been described in LWD/ISS individuals.Case presentation: The boy was ...

Introduction: Thyroid nodules are uncommon in the paediatric population, present in 5% of children but 35% of adults. However, up to 25% of paediatric nodules are malignant, compared to 5% in adults. It can be challenging to differentiate malignant nodularity from benign clinically, particularly in the presence of a thyroid disorder. We present two contrasting cases of adolescent girls with solitary thyroid nodules.Case 1: A 13-year-old girl was referred...

Background: A 3.6-year-old Caucasian male presented with rapid onset of deep voice, facial hair, Tanner stage 2 testes, Tanner stage 3 pubic hair, penile length 9.5 cm, growth velocity (GV) 13.1 cm/year, and bone age 7 years. Evaluation was consistent with central precocious puberty and ruled out other pathology. Standard weight-based gonadotropin-releasing hormone agonist (GnRHa) therapy was initiated. GV increased to 16.6 cm/year, puberty advanced further, and bone age was 1...

Background: Premature thelarche is the isolated breast development in girls <8 years of age unaccompanied by other signs of puberty including advanced bone age or growth spurt. The GnRH stimulation test is used to distinguish between premature thelarche and central precocious puberty.Objective and hypotheses: We studied accuracy of the gonadotropin responses to GnRH stimulation in predicting pubertal progression in children diagnosed with premature t...

Context: Neonatal hypoglycemia due to congenital hyperinsulinism (CHI) is a potentially life-threatening condition. Severe forms of CHI, caused by autosomal recessive variants in KATP channel subunit genes (ABCC8, KCNJ11), are more prevalent in regions with high consanguinity. These regions also have a high neonatal mortality rate with many deaths remaining unexplained.Patients and Methods: We analyze...

Background: IPEX (OMIM #304790) is a rare and fatal, X-linked immune dysregulatory disorder caused by mutation in transcription factor FOXP3 that result in either quantitative or functional deficiencies of Tregs causing autoimmune disease and allergic inflammation. HSCT is the only curative therapy available for IPEX patients.Objective: Presented boy was born at 38th GW with birth weight 3380 g and birth length 50 cm. Three maternal brothers d...

Background: Mutations in the SUR1 subunit of the KATP channel encoded by the ABCC8 gene can result in diverse phenotypes ranging from Transient Neonatal Diabetes (TNDM) to type 2 diabetes in adulthood. These patients may benefit from sulphonylurea treatment.Objective and hypotheses: To describe the course of diabetes in two families with ABCC8 gene mutations and to assess the effect of sulphonylurea treatment.<p class="ab...

Background: The phenotype associated with heterozygous HNF1A gene mutations has recently been extended to include neonatal hyperinsulinaemic hypoglycaemia (HH) in addition to maturity-onset diabetes of the young (HNF1A–MODY).Objective and hypotheses: The baby boy was born at 38th week of gestation; BW 4110 g; BL 53 cm (LGA). The mother had gestational diabetes; her father is treated for diabetes mellitus from the age of 50 years. The boy de...

Objective: Growth hormone (GH) is a central hormone for regulating linear growth during childhood and also highly involved in metabolism of lipids, carbohydrates and protein. However, few studies report on how treatment with GH during childhood influences metabolic parameters. Our aim was to investigate metabolic effects of different doses of GH in short children with GH peak levels in the low normal range.Design: Thirty...

Introduction: Congenital adrenal hyperplasia (CAH) is the underlying diagnosis in most newborns presenting with 46,XX disorders of sex development (DSD). Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of CAH caused by inactivating mutations in the POR gene. POR is a crucial electron donor to all microsomal type 2 P450 cytochromes (CYPs), including 21-hydroxylase (CYP21A2) and 17alpha-hydroxylase (CYP17A1). The hallmark feature of PORD is combined sex-steroid a...