ESPE Abstracts

Background: In later life, osteoporosis and poor cognitive function often co-exist. This has commonly been attributed to post-menopausal estrogen loss, but there is increasing recognition of cross-talk between the brain and bone. For example, in animal models, bone derived osteocalcin has positive associations with brain volume and cognitive function whilst brain-derived neurotransmitters appear to influence bone mass. Despite this, a common early life origin ...

Background: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder among women of reproductive age and is characterised by chronic low-grade inflammation, ovulatory dysfunction and hyperandrogenism, and often by insulin resistance. The IGF system is involved in glucose metabolism regulation and is altered in chronic inflammation where both IGF-I and –II can be reduced. We previously described increased HMGB1 content in follicular fluid (FF) in P...

Background: MKRN3 (Makorin Ring Finger Protein 3) is a maternally imprinted intronless gene located in the Prader-Willi syndrome locus (chromosome 15q11.2-q13). It is recognized that MKRN3 loss-of-function mutations are the primary cause of familial central precocious puberty (CPP). The MKRN3 protein primarily acts as an E3 ubiquitin ligase, and its activity is essential for controlling the timing of puberty, functioning as a brake on gonadotropin-releasing ho...

Background: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder among women and is characterised by chronic low-grade inflammation, ovulatory dysfunction, hyperandrogenism, and often by insulin-resistance. However, little is really known on insulin/IGF signalling in PCOS ovaries. This study aim ed to investigate the amount of Insulin (IR) and IGF-I receptor type I (IGF-IR1) and their intracellular mediators in granulosa cells from PCOS women with r...

Background: PCOS is characterised by chronic low-grade inflammation, ovulatory dysfunction, hyperandrogenism, and insulin-resistance. The IGFsystem includes IGF-I, -II and seven IGFBPs, which regulate IGFbioavailability. Chronic inflammation modifies the IGF system that regulates ovarian function and glucose metabolism. HMGB1 is related with both inflammation and insulin sensitivity;we previously described increased HMGB1 FF in PCOS. This study aim ed to inves...

Background: Children with classical congenital adrenal hyperplasia (CAH) require glucocorticoid replacement. The measurement of cortisol and steroid precursors in saliva is particularly suitable for pediatric endocrinology. Data on salivary cortisol measurements in patients with CAH is limited.Objective and hypothesis: The cortisol in saliva shows a circadian rhythm even under steroid substitution. This is independent of...

Introduction: Aromatase excess syndrome (AEXS) is a rare, autosomal dominant disorder, characterized by enhanced extraglandular aromatization of androgens and estrogen excess. Genomic rearrangements in chromosome 15q21 are found to result in overexpression of the aromatase gene CYP19A1. In males it is characterized by pre- or peripubertal gynecomastia, hypogonadotropic hypogonadism, advanced bone age and short adult height. Only a few female patients have been...

Background: Central diabetes insipidus (CDI) is characterised by a central deficiency of arginine vasopressin (AVP) with polyuria and polydipsia. The etiology is heterogeneous. The treatment of choice is the oral or nasal application of DDAVP (synthetic analogue of AVP). CDI in the context of coronavirus disease 2019 (COVID19) has been reported in an individual case.Case report: We present a 9-year old male with CDI of u...

Background and aims: Existence and diagnostic procedures of neurosecretory dysfunction (NSD) are still a matter of debate. The aim of the study was to analyse prediagnostic data of short-statured children with pathologic and normal spontaneous GH-secretion and to evaluate the effect of GH-therapy in NSD-patients.Methods: Of 90 children aged 3–16 years, in whom 12-hour night profiles for GH-secretion were performed (unicentric), in 49 NSD was diagnos...

Background: In patients with acid-labile subunit (ALS) deficiency, the inability to build ternary complexes results in a marked reduction of circulating total IGF1. Height reduction by heterozygosity is about 1 SD in comparison to wild type. In homozygosity or compound heterozygosity a height loss of −2 to −2.5 SD occurs. This is suggestive of a gene-dose effect. How does treatment with human GH influence height development in relation...