ESPE Abstracts

Background: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation and Neural tumor (ROHHADNET) is a rare condition. The first symptom is the appearance of rapid onset obesity (2–4 years) followed by central hypoventilation, hypothalamic dysfunction, dysautonomic symptoms and neural tumors.Objective and hypotheses: Aim of this study was to evaluate adrenal function in ROHHADNET patients from a single-center.<...

Background: Polycystic ovarian syndrome (PCOS) is the most common cause of oligomenorrhea and hyperandrogenism. Diagnostic criteria for PCOS includes ovarian dysfunction and clinical or biochemical evidence of hyperandrogenism. The differential diagnosis includes congenital adrenal hyperplasia as well as steroid producing tumors.Case presentation: 18-years-old female presented to establish care with a history of PCOS diagnosed at the age of 11 years. She...

Background: Isolated persistence of Müllerian ducts in an otherwise normally virilised 46,XY newborn, a condition known as PMDS, is a disorder of sex development (DSD) due to a defect limited to AMH-dependent Müllerian duct regression.Objective and hypothesis: We report the case of a patient with PMDS and extremely low serum AMH in whom no mutations were detected in the AMH gene coding sequences. A single base deletion identified in th...

Background: Coeliac disease (CD) can be associated with impaired growth in children after a prolonged period of Gluten-free diet (GFD). A small percentage of CD patients does not show catch-up growth during GFD because of GH secretion deficiency (GHD) that could be associated with antipituitary autoantibodies (APA).Objective and hypotheses: This study aims to evaluate the efficacy of recombinant human GH (rhGH) therapy on final adult height in children w...

Background: The onset of physiological puberty in females is characterized by physical, hormonal, and genital changes. However, a single specific parameter to early identify these modifications does not exist; its identification could be extremely useful in the evaluation of pubertal development disorders. The uterine artery pulsatility index (PI), defined as systolic peak – diastolic peak/average speed of maximum flow, is an expression of vascular compliance in the uteri...

Background: GnRH analogs (GnRHa) have been used in the management of central precocious puberty (CPP). The response to GnRHa treatment are evaluated by clinical, hormonal, and ultrasonographic criteria. However, a single parameter to define the adequacy of therapy is not defined. The uterine artery pulsatility index (PI), defined as systolic peak – diastolic peak/average speed of maximum flow, is an expression of vascular compliance in the uterine artery. Circulating estr...

Background: Cleidocranial dysplasia (CCD; MIM 119600) is a rare congenital autosomal dominant skeletal dysplasia characterized by hypoplastic or aplastic clavicles, late closure of the fontanelles, open skull sutures, dental anomalies, moderately short stature and a variety of other skeletal features. CCD is caused by mutations, deletions or duplications in the runt-related transcription factor 2 gene (RUNX2), which encodes for a protein essential for osteoblast differentiatio...

Background: Several studies have investigated the effects of GH replacement therapy (GHRT) on thyroid function in children with GH deficiency (GHD) leading to contrasting results. Indeed, GHRT has been reported to affect the peripheral metabolism of thyroid hormones, to alter TSH secretion by pituitary and to unmask secondary hypothyroidism.Objective and hypotheses: To evaluate long-term effects of GHRT on thyroid function in a large cohort of GHD childr...

Background: Prader–Willi syndrome (PWS) is a relatively common multisystem disorder with a prevalence estimated in several studies to be in a range of one in 10 000–30 000 individuals.Objective and hypotheses: For the first time to our knowledge, we describe the case of a couple of twin, naturally conceived, monochorionic diamniotic, both affected by PWS.Method: The gravida 3 para 1 mother was 43, and the father 40, at th...

Background: Perinatal factors seem to influence the onset of puberty. There is some evidence suggesting that being born small for gestational age (SGA) is associated with early puberty, whereas the effect of large size at birth on timing of puberty is not clear.Objective and hypotheses: To evaluate the timing of puberty in children born SGA and large for gestational age (LGA) compared to children born appropriate for gestational age (AGA).<p class="a...