ESPE Abstracts

Loss of function mutations in SGPL1 (sphingosine-1-phosphate lyase) give rise to a multisystemic syndrome with predominating features of primary adrenal insufficiency (PAI) and steroid resistant nephrotic syndrome. Retrospective analysis of our patient cohort and the wider literature also demonstrated primary gonadal insufficiency in a third of male patients with microphallus and bilateral cryptorchidism (all with concomitant adrenal disease and high mortality in infa...

Whilst several key genetic contributors to the phenotype of central precocious puberty (CPP) have been recognized, many familial cases remain without clear a genetic aetiology. Causal genetic variants are reported in imprinted genes Makorin ring finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1), alongside Kisspeptin-1 (KISS1) and (KISSR1), implicating mis-regulation of transcriptional control of the kisspeptin and GnRH neuroendocrine systems in onset of CPP. We recently...

Introduction: In congenital adrenal hyperplasia (CAH), glucocorticoid (GC) treatment must perform two functions – to replace cortisol deficiency and to suppress the excess production of adrenal androgens. Unfortunately, androgen suppression usually requires supraphysiologic GC doses, which are associated with serious comorbidities. Our study examined the exposure or dose-dependent relationships between GCs and GC-related adverse events (GCRAEs) and comor...

Introduction: Alstrom syndrome (ALMS) is an autosomal recessive disorder characterized by multiple organ involvement, including progressive cone-rod dystrophy, sensorineural hearing loss, childhood obesity, and type 2 diabetes mellitus. Pathogenic variants in the ALMS1 gene are the known cause for the occurrence of this devastating condition. Here, we reported a case of Alstrom syndrome with a novel homozygous variant in the ALMS gene, who presented to our cli...

Background: Diazoxide therapy is used as first line treatment in hyperinsulinaemic hypoglycaemia (HH). Apart from a single study reporting efficacy of low dose diazoxide in small for gestational age (SGA) infants, diazoxide has been reported to be used in doses of 5-20 mg/kg/day [1].Objective: To report the outcomes of infants with HH responsive to low dose diazoxide (≤5mg/kg/day).Method...

Background: Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hypopituitarism, midline brain abnormalities, and optic nerve hypoplasia (ONH). Children with SOD experience varied visual impairment and endocrine dysfunction. Autistic-like behaviours have been reported, however the nature and prevalence of these neurobehavioural impairments remain to be fully understood. The present systematic review aimed to...

Introduction: Resistance to thyroid hormones is defined as lack of response of peripheral tissues to triiodothyronine (T3) which is the active form of thyroid hormones. In general (85%) a mutation is detected in the thyroid hormone receptor β (THRB) gene and more rarely, the thyroid hormone receptor α (TRHA) gene.Case: A 4.7-year-old boy, was admitted to the pediatric endocrinology outpatient clinic of Akdeniz...

Background: Mild isolated neonatal hyperthyrotropinaemia (HTT), defined as elevated thyroid stimulating hormone (TSH) with normal free thyroxine (FT4) concentrations, may be identified by newborn screening programmes for congenital hypothyroidism (CHT) or when neonatal thyroid function tests (TFTs) are performed for a clinical indication. Reported HTT incidence rates vary (from 0.001-0.1%)1. Case definition also varies, with some authors using a TSH...

Background: Myo-inositol(MI)is a polyol involved in intracellular signaling pathways of insulin and MI has been used orally for therapeutic purposes in girls and adult women with polycystic ovary syndrome(PCOS)with variable success. As yet, serum MI levels have not been assessed in girls with PCOS.Aim: Our primary goal was to compare serum MI levels in girls with PCOS with those in healthy peers. Secondary goal was to in...

Background: Congenital diabetes insipidus (DI) can be due to mutations in the arginine vasopressin (AVP) gene (familial neurohypophyseal DI), the AVP receptor type 2 (AVPR2) or aquaporin 2 (AQP2) genes (congenital nephrogenic DI, NDI). The clinical manifestation of congenital NDI, especially the response to AVP, can vary greatly depending on the functional effect of the AVPR2 mutation. Here we present two male siblings with NDI and partial response to ddAVP.<p class="abste...