ESPE Abstracts

Background: Paediatric HPAT, though generally benign, incurs significant neuro-endocrine morbidity. Their management is unclear and the paediatric neuro-oncology or adult pituitary forum at which they are discussed lack pituitary or age-specific expertise respectively. The UK National HPAT Interest Group has pioneered a monthly, multi-site, interdisciplinary, video conferencing decision-making forum, to garner necessary experience and evidence of outcomes to assist worldwide r...

Introduction: ACTHd is life-threatening and difficult to differentiate from ACTH suppression (ACTHs) especially in CYP receiving perioperative corticosteroids. In our experience, this is always the most robust anterior pituitary hormone to brain injury, whilst GH deficiency (GHd) is the first and LH/FSHd and TSHd intermediate in hierarchy. We previously showed HPA axis recovery at 3.08 (2.38–10.33) years after cortiscosteroid therapy for ACTHd in 13.6% of 44 CYP with cran...

Background: Brain tumours are the most frequent solid tumours during childhood. Many of these patients develop endocrine disorders.Objective: To describe our cohort of patients with primary brain tumours, followed in the Pediatric Endocrinology Unit at Hôpital Universitaire Necker–Enfants Malades, Paris, France between 2010–2015, to assess current practice and propose recommendations.Methods: Retrospective a...

Introduction: Childhood prolactinomas often occur as aggressive macro (1–4 cm) or giant (>4 cm) tumours, with little consensus regarding timing of optimal therapies.Aim: To highlight the phenotype and treatment outcome of childhood macroprolactinomas.Subjects and methods: Case-note review of 10 (five male) children (<18 years) (presenting to our centre between 2009 and 2017 with hyperprolactinaemia due to macro/giant-p...

Pituitary adenomas are usually benign tumours arising from the hormone-secreting cells of the anterior pituitary gland. These adenomas can result in excess hormone secretion and the development of characteristic syndromes, such as Cushing’s disease, acromegaly and hyperprolactinaemia, and/or mass effects on surrounding vital structures causing for example visual disturbances and pituitary hormone deficiencies. In children and young people under 19 years (CYP), the managem...

SOX3 is located on the X-chromosome (Xq27.1) and encodes a SRY-related protein that acts as a developmental transcription factor. Copy Number Variations (losses and gains), mutations of polyalanine stretches (deletions or expansions) and missense mutations of SOX3 have been associated with growth hormone deficiency with incomplete penetrance, hypogonadism, differences of sexual development and variable additional endocrine disorders (MIM #312000 and #300123)....

Background: Rokineticin receptors (PROKR1 and PROKR2) belong to the family of G protein-coupled receptors. Bi-or mono allelic mutations in PROKR2 gene have been identified in Kallmann syndrome which is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. Recently, PROKR2 mutations were reported in patients with multiple pituitary hormone (MPHD) and growth hormone deficiencies (GHD), suggesting a potential role for the PROK2 p...

Background: Third generation aromatase inhibitors (AI) have never been used as monotherapy, except for Mc Cune-Albright syndrome and autonomous ovarian cysts, to increase predicted adult height (PAH) in girls, mainly due to the theoretical concern of hyperandrogenism. Our previously published GAIL study [J Endocrinol Invest. 2016 Apr;39(4):439–46] has shown that the combination of anastrozole to an LHRH analogue for 24 months is safe and effective in ameliorating PAH in g...

Introduction: Growth hormone excess (GHE) in children with neurofibromatosis type 1 (NF-1) has been reported in some sporadic cases. Whether GHE stimulates progressive optic pathway glioma (OPG) growth is of concern. The prevalence of GHE in NF-1 has not been described and the scheme treatment has not been well characterized.Objective: To describe in children with NF-1/OPG and GH excess the treatment regimen and long term response to long- acting octeotr...

Background: The exposure to environmental toxicants has been estimated to contribute directly to 3% of human neurodevelopmental disabilities (NDDs). Organochlorine pesticides (OCPs), which are widespread persistent organic pollutants, have been implicated mainly because of their endocrine disruptive nature. Several studies have reported the above relations between maternal serum, the placenta barrier and the breast milk levels of OCPs and NDDs.Aim: The a...

Objective: Central precocious puberty (CPP) is characterized by the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Early activation of hypothalamic-gonadal axis is influenced by both environmental and genetic factors. Especially, genetic factors have critical role of pubertal progression, but mutations associated with CPP have only been discovered in three genes: KISS1, KISS1R, and MKRN3. The aim of thi...

Background: Precocious puberty is defined as breast development before 8 years in girls and gonad development before 9 years in boys. Central precocious puberty (CPP) results from early activation of the hypothalamic-gonadal axis. One third of idiopathic CPP is reported to be familial. Genetic mutations were initially described in kiss-peptin-1 (KISS1) and its receptor (KISS1R). More recently, Abreu et al identified heterogeneous mutations in the makorin RING finger 3 (MKRN3) ...

Background: Recently, mutations of makorin RING-finger protein 3 (MKRN3) have been identified in familial central precocious puberty (CPP). Serum levels of this protein decline before the pubertal onset in healthy girls and boys and are lower in patients with CPP compared to prepubertal matched pairs. The aim of the study is to investigate longitudinal changes in MKRN3 circulating levels in patients with CPP before and during GnRHa treatment.Me...

Aims: The current study aimed that first morning voided (FMV) urinary gonadotropin measurements could be used as a noninvasive alternative to the gonadotropin-releasing hormone (GnRH) test in the assessment of the hypothalamic-pituitary-gonadal function in children.Methods: In a multi-center study, we compared FMV urinary gonadotropin concentrations with GnRH-stimulated serum gonadotropin levels in 140 girls aged 7–9 years who were evaluated for pub...

Introduction: Delayed or absent puberty is thought to be common in boys with Duchenne Muscular Dystrophy (DMD).Objective: To evaluate testicular development, function and puberty in DMD in a 12 months prospective longitudinal study.Methods: Thirty-four boys had assessment of puberty and testes volume by a single endocrinologist. Testes volumes were converted to Z-scores adjusted for bone age. Boys were divided into group A [Baselin...

Background: Over the past several decades, the age of pubertal onset in girls has shifted downward worldwide. Exposure to endocrine disrupting chemicals (EDCs) during critical windows of development may play a role in this trend. Epidemiological and animal studies showed that exposure to phthalates and BPA could be associated with earlier puberty onset in girls.Objective: To investigate the association between the exposure to BPA, DEHP’s metabolites...

Objective: To investigate the association of the gonadal axis with pro- and anti- oxidation, in relation to obesity and pubertal status in boys, before and after a stimulatory exercise bout.Design: Cross-sectional human experimental study.Methods: Ninty-two healthy normal-weight and obese pre- and early- pubertal boys, participated in this study. All subjects underwent a baseline blood sampling followed by an aerobic exercise bout ...

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: ...

Objectives: Current safety data do not indicate an association of GH therapy with increased risk for development/progression of tumours, or worsening of congenital cardiac conditions in individuals with Noonan syndrome (NS); however, data are limited. This report describes real-world safety data on GH therapy in paediatric patients with NS.Methods: Two complementary non-interventional, multicentre studies, NordiNet IOS (NCT00960128) and ANSWER Program (N...