ESPE Abstracts

Background: Different studies have underlined the role of anti-Müllerian hormone (AMH) and inhibin B as markers of the ovarian function in paediatric and adolescent patients with Turner syndrome (TS).Objective and hypotheses: Our study aims to verify the role of AMH in a cohort of patients affected by TS.Method: We analysed 23 TS patients, aged 2–34 years, describing their auxological parameters and the pubertal developme...

Intro: Gender variance is becoming more common in young people. International guidelines recommend GnRH analogues (GnRHa) for gender variant young people from Tanner stage 2 onwards and cross-sex hormones (CSH) from age 16yr onwards. However, no good evidence exists how these affect growth. This first report aims to determine the impact of GnRHa and CSH on growth in young transgender adolescents to help inform prescribing in this patient cohort.Methods: ...

A 16-year-old boy was admitted to the Emergency Department for a painless laterocervical swelling, dysphagia and an ultrasound suspect of thyroiditis. On examination he presented facial asymmetry due to maxillary bones hypoplasia and facial nerve palsy of recent onset. There was also a history of hearing loss, hypospadias, Arnold-Chiari malformation and vertebral defects according to a clinical phenotype of Goldenhar Syndrome (GHS). Blood exams showed TSH 7.46 μU/ml (0.68-4...

Short stature is a frequent reason for referral to pediatric endocrinologists and this phenotype has been associated with a large number of gene variations during the last decades, highlighting its complex and heterogeneous etiology. We evaluated the detection rate of the analysis of a selected gene panel in a cohort of patients with short stature defined as height below -2 standard deviations (SD). Overall, 134 patients were included in the study: 73 with GH deficiency (GHD),...

Background: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterized by rickets, muscle weakness, bone pain, nephrocalcinosis or nephrolithiasis. It is caused by mutation in SLC34A3 gene, encoding for renal sodium-phosphate cotransporter IIc (NaPi-IIc).Case: A patient aged 10 years came for evaluation for bone pain at lower limbs. He was born at full term from no...

Introduction: Mandibular hypoplasia, Deafness, Progeroid features, Lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by mutation in POLD1 gene, which encodes the catalytic subunit of the DNA polymerase delta (Polδ) enzyme.Case: a 6.5-year-old boy presented to the outpatient clinic due to severe thinness (BMI -4.86 SDS, WHO 2006 growth charts). Examination of his medical history rev...

Background: Congenital Adrenal Hyperplasia (CAH) is a rare autosomal recessive genetic disorder caused by the absence or severely impaired activity of enzymes involved in adrenal steroid biosynthesis, with over 90% of cases resulting from 21-hydroxylase deficiency. The initial presentation of CAH can range from a dramatic adrenal crisis with salt loss to more subtle signs such as female genital ambiguity or male scrotal hyperpigmentation. Timely identification...

Background: Pseudohypoparathyroidism (PHP) refers to a group of rare diseases characterized by post-receptor resistance to parathyroid hormone and other protein hormones (TSH, GHRH, LH, FSH), due to defects in the Gsα protein. PHP can be associated with the phenotype known as Albright’s hereditary osteodystrophy (AHO), which includes round face, short stature, brachydactyly, ectopic ossifications and mental retardation. Diagnosis often stem out fro...

Background: Pituitary hyperplasia secondary to primary hypothyroidism (PHPH) is a rare cause of sellar mass in paediatric patients. Longstanding and untreated primary hypothyroidism leads to hyperplasia of thyrotrophs and lactotrophs as well as transdifferentiation of somatotrophs to thyrotrophs. Hashimoto's thyroiditis is the most common cause of hypothyroidism in PHPH. Clinical findings of PHPH include growth retardation, obesity and symptoms of hypothy...

Inherited disorders of biogenic amine metabolism are rare neurometabolic disorders caused by defects in neurotransmitters (dopamine, serotonin, norepinephrine, epinephrine). Dopamine deficiency leads to hyperprolactinemia. Prolactin blood level is used as peripheral indirect biomarker of central dopamine deficiency and can help in adjusting the therapy dosage, which primarily consists of using L-dopa. However, patients may become refractory to L-dopa and they could present hyp...