ESPE Abstracts

Background: Growth monitoring of apparently healthy children aims at early detection of severe underlying conditions. Strong empirical evidence shows that current practices of growth monitoring are suboptimal. Practice standardisation with validated tools requires answering two questions: Which conditions should be targeted? How should abnormal growth be defined?Objective and hypotheses: To obtain consensus on a short list of priority target conditions o...

Background: Early postnatal administration of recombinant human gonadotropins can be an effective way to mimic mini-puberty, and thus increase penile growth in infants with congenital hypogonadotropic hypogonadism (CHH). We report for the first time its efficacy on an infant with partial androgen insensitivity syndrome (PAIS).Objective and hypotheses: To evaluate the benefits of a continuous subcutaneous infusion of recombinant human gonadotropins (CSCI-...

Background: The diagnosis, treatment, and management of growth disorders can have a substantial burden on patients and caregivers. Research was conducted with patient experts to understand challenges experienced by patients with growth disorders and their caregivers, and identify opportunities to improve care.Methods: A mixed-methods approach was used to obtain insights from patient experts between October 2022-January 2...

Background: Unlike term neonates, known to exhibit a physiological pseudohypoaldosteronism, very preterms (VPT) display a high sodium waste at birth with partial aldosterone deficiency. This context, combined with a low aldosterone/renin ratio is highly suggestive of a defect in mineralocorticoid biosynthesis.Objectives and hypotheses: To investigate mineralocorticoid and glucocorticoid pathways in newborns, and to clarify the impact of prematurity upon ...

Background: Brain-lung-thyroid syndrome (BLTS, OMIM# 610978) is caused by mutations in the NK2 homeobox 2 (NKX2-1; TTF1) gene affecting the three NKX2-1 expressing organs brain, lung and thyroid. The syndrome is characterized by benign hereditary chorea (BHC), infant respiratory distress syndrome (IRDS) and congenital hypothyroidism (CH). However, the clinical spectrum and severity of symptoms vary widely. Regarding the increasing number of published mutations and het...

Background: The molecular diagnosis of McCune Albright syndrome (MAS) is difficult because the detection of somatic GNAS1 mutations is usually performed in blood, in which the fraction of mutated allele could be barely detectable. To improve the usual techniques (selective enrichment, either with nested PCR and enzymatic digestion or with use of peptide nucleic acid probes), and to avoid technical problems like contamination, a new approach using next generation seque...

Background: A national French registry was created to address the absence of data on final height and safety following long-term exposure to supraphysiological doses of growth hormone (GH) in children born small for gestational age (SGA).Methods: This observational, non-interventional study (NCT01578135) included GH-naïve and non-naïve SGA children treated with GH at 126 sites in France. The inclusion period wa...

Introduction: Disorders of sex development (DSD) refer to a group of conditions, including Turner syndrome in which an individual's physical sex characteristics do not conform to typical male or female patterns, including a range of differences in chromosomes, hormones and anatomy. Gender-specific problems are usually not prominent, compared to other forms of DSD. Gender dysphoria (GD) is a discomfort between a person’s assigned sex based on physica...

Objective: Premature GH treatment discontinuation of SGA is usually linked to safety or ineffectiveness. However, this population is poorly addressed compared to those with final adult height (FAH). Authors investigated the journey of SGA prematurely discontinued Norditropin® treatment in a French real-life.Methods: Observational prospective ongoing study: 291 Norditropin®-treated SGA. Annual FU up to FAH. Descriptive anal...

Objective: Age and height at treatment start, target height, GH dose, and first year treatment response are among known criteria of GH deficiency (GHD) good responders (final adult height [FAH] >−2 standard deviation score [S.D.S.]) to GH treatment (GHT). The authors investigated whether the same criteria are applicable to SGA patients based on real-life ongoing French registry data.Methods: 291 SGA children treated with Norditro...