ESPE Abstracts

Background: Automimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an extremely rare autoimmune condition caused by AIRE (autoimmune regulator) gene mutations and characterised by a classic triad of 1) chronic mucocutaneous candidiasis, 2) hypoparathyroidism and 3) adrenal insufficiency. APECED can involve any endocrine or non-endocrine organ. Consequently, clinicians need to be mindful of the great variability in presentation. Although ad...

Background: Reaching a definitive diagnosis in individuals with XY DSD is challenging and the time taken to reach a diagnosis is an important clinical benchmark that has not been sufficiently explored in this group of conditions.Objective: To evaluate the diagnostic process with a focus on the time to diagnosis in children with XY DSD reported via the e-reporting platform (e-REC) of the European Registries for Rare Endoc...

Introduction: Sulfation is required for the metabolism of numerous compounds, including proteoglycans, steroid hormones, neurotransmitters, toxic chemicals, and drugs like acetaminophen. The sulfate transporter SLC13A1 is responsible for the intestinal absorption and the renal reabsorption of inorganic sulfate, but loss-of-function mutations in this gene have never been described in man. Here, we describe a male with a biallelic loss-of-function variant, i.e.,...

Introduction: The conventional approach to the treatment of Beta- thalassemia major (BTM) is based on the correction of hemoglobin status through regular blood transfusions and iron chelation therapy for iron overload. Allogeneic hematopoietic stem cell transplantation (HCT) remains the only currently available technique that has curative potential. No previous study compared the long-term growth and endocrinopathy changes among large cohorts of BTM patients o...

Background: Carney complex (CNC) is a rare autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome, characterized by abnormal cutaneous and mucosal pigmentation, myxomas of the heart, skin, breast and other non-endocrine tumors. CNC is principally caused by loss-of-function mutations of PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Cushing’s syndrome is a rare disorder in...

Methods: We performed an electronic search in PubMed, Google Scholar, and Web of Sciences to evaluate the global prevalence of growth hormone impairment and different endocrinopathies in SCD in all publications in the past 25 years.Results: Sixteen studies were included from 9 countries (USA, Canada, UK, Brazil, Jamaica, Egypt, Turkey, Saudi Arabia, and Bahrain) after 2000. The total number of patients was 1286. Most pat...

Introduction: Primrose syndrome was defined in 1982. It is characterized by characteristic facial appearance, macrocephaly, global developmental delay, intellectualdisability and calcification in the outer ear. It occurs with loss-of-function mutations in the ZBTB20-gene. This gene is a transcriptional gene suppressor regulator and is effective on neurogenesis, glucose homeostasis, and postnatal growth. Here, a case with Primrose syndrome will be presented.</p...

Introduction: Craniopharyngioma, a benign tumor, develops in the sellar/parasellar region. Diagnosis is usually late. Symptoms include severe headaches and vomiting, visual impairment, visual and olfactory hallucinations and at least one hormonal deficiency. Celiac disease is caused by an immune reaction triggered by gluten in the small intestine. Over time, due to inflammation, it causes malabsorbtion which can affect growth in children.<p class="abstext"...

Background: Heterozygous de novo variants in SAMD9 cause the complex multisystem growth disorder, MIRAGE syndrome. Core features are myelodysplasia, infection, restricted growth, adrenal hypoplasia, genital/gonadal phenotypes, and enteropathy. However, the range of additional associations is expanding and includes disrupted placental development, poor post-natal growth, and other endocrine features. Milder phenotypes are also described, such ...

Background: Poor growth and under-nutrition are common in children with sickle cell disease (SCD). This review summarizes evidence of impaired linear growth and weight gain in children with SCD in different regions of the world in the past 25 years.Methods: A literature search was conducted on Medline/PUBMED, Google scholar, and SCOPUS, for studies published in English during the past 25 years, using the keywords sickle ...

Mitochondrial diseases are multisystemic disorders which often involve endocrine system, as defective oxidative phosphorylation can lead to decreased hormones production or secretion and all steroid hormones are synthesized in the mitochondria. Endocrine dysfunctions can therefore represent the initial symptoms of these pathologies and the incidence of various endocrinopathies varies between different mitochondrial disease. Diabetes mellitus is the most frequently described en...

Blood transfusion and iron chelation are conventional treatments for β-thalassemia (BTM). However, iron overload in parenchymal organs and endocrine glands still occurs in a good number of these patients.Objective: To evaluate the prevalence of iron-related complications (short stature, growth retardation, and growth hormone deficiency) in BTM.Methods: We performed an electronic search in PubM...

Background: The decreased immune tolerance caused by mutations of the autoimmune regulatory gene (AIRE) lead to a spectrum of variable organ specific autoimmune disorders known as autoimmune polyglandular syndrome type 1 (APS-1). The rarity of the syndrome and the heterogenous clinical manifestations at the onset of the disease may delay the diagnosis. Only when two major components of the triad chronic mucocutaneous candidiasis – hypoparathyroidism &nda...

Introduction: We investigated the age of starting Estrogen replacement therapy as a key parameter for reaching near normal Final Height (FH) in Chronic Kidney Disease (CKD) girls with growth retardation. Although Growth Hormone (GH) therapy significantly increase final height in children with CKD, these children's final height remain under normal population height in several studies. As normal puberty is a key point to reach normal final height, unmet nee...

We report on a 17-year-old female patient with cramps in hands and legs since 6 months. She showed hypokalemia with high need of potassium substitution (128mmol K= 1.3 mmol/kg/d), arterial hypertension (mean 154.5/92 mmHg), polydipsia and polyuria without nocturia or salt craving. Her PMH revealed neuroblastoma stage III with high-dose chemotherapy, stem cell transplantation and obesity (36.8 kg/m2). Further investigation showed aldosterone 77.5 ng/dl (norm values: 2-10ng/dl),...

Background: Congenital sodium diarrhea (CSD) is a monogenic disorder caused by specific genetic defects that increase sodium content in the stool, resulting in intractable diarrhea. There are two categories of CSD depending on whether it involves other congenital malformations: non-syndromic congenital sodium loss diarrhea (non-sCSD) and syndromic congenital sodium loss diarrhea (sCSD). For non- sCSD, the identified causative genes include SLC9A3 and GUCY2C, w...

We present the case of a now 20 months old female patient, in whom we diagnosed MAS on the basis of pseudoprecocious puberty and hypercorticism at the age of 10 months. Medical history and photodocumentation suggested that symptoms of hypercorticism were present soon after birth. At age 4 months thelarche had occurred, followed by vaginal bleeding at age 5 months. At first presentation at our outpatient clinic, the girl was severely short (-5 SDS), with only minimally advanced...

Purpose: Clinical problems caused by impaired molecular function of inborn errors of immunity (IEI) genes are not limited to the immunological system but can also affect the endocrine system. An autosomal recessive form of severe congenital neutropenia also known as Kostmann syndrome (KS) is caused by mutations in the gene encoding the mitochondrial protein HAX1. Knowing that most endocrine disorders associated with IEI are hypofunction, a close cooperation be...

Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by a classic triad of optic nerve hypoplasia, agenesis of septum pellucidum and corpus callosum, and hypoplasia of the hypothalamic-pituitary axis. Up to date, a shared consensus is not available and the diagnosis relies mainly on clinical and neuroradiological findings. Even though few genes have been described as responsible for this syndrome, the precise causes of SOD remain unknown and a combination of...

Introduction: Pituitary stem interruption syndrome (PSIS) is a congenital anomaly of the pituitary gland characterized by the absence or thinness of the pituitary stalk, an ectopic posterior pituitary gland and a hypoplastic or aplastic anterior pituitary gland. Our case is an example of this rare syndrome.Case: A 12-month-old male patient was referred to us by pediatric urology for micropenis and undescended testis. He ...

Capillary hyperglycemia in critically ill infants is a situation with numerous interfering factors, from acute illnesses to concomitant use of medications and may or may not be a manifestation of endocrinological urgency. Clinical case: Female patient, 2 months old, with failure to thrive, hepatomegaly without cholestasis, polyuria and compensated metabolic acidosis. On admission, capillary blood glucose levels above 200 mg/dL were measured even without concomitant use of cort...

Background: systematic data about endocrinopathies in Rett syndrome (RTT) patients are still scarce and not univocal.Objective: to assess the prevalence of endocrinopathies in a pediatric population of RTT patients.Design: retrospective observational single center study.Methods: 29 caucasian patients (28 girls,1 boy) with genetically confirme...

Introduction: Endocrine complications observed in patients with thalassemia major (TM) are mainly secondary to martial overload. Hypoparathyroidism (HPT) is a late and rare complication, typical of the 2nd decade of life in transfusion-dependent thalassemia patients (TDT). It is usually associated with other iron overload conditions (diabetes, hypogonadism, heart failure, etc.). The incidence of PTH varies from 1.2% to 20% depending on the center. Men are more...

Background: Type 1 pseudohypoaldosteronism (PHA1) is a rare syndrome characterized by unresponsiveness to aldosterone. Diagnosis is established by high levels of aldosterone and plasma renin activity, associated with findings of hypoaldosteronism (hyponatremia, hyperkalemia and metabolic acidosis). When the inheritance pattern is autosomal recessive it expresses as a severe systemic disease and the mortality rate is high, especially in the neonatal period....