hrp0098p3-211 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Fahr's syndrome as a manifestation of autoimmune polyendocrinopathy syndrome and its unusual presentation with seizures

Rehman Bushra , Akbar Abida , Kaleem Sidra , Humayun Khadija , Arif Muzna

Background: Fahr's syndrome is a rare neurological disorder, characterized by symmetric calcifications in basal ganglia, cerebellum, and cerebral cortex, secondary to genetic, infectious, and autoimmune etiologies which can lead to movement and gait disorders, cerebellar and speech abnormalities, and cognitive impairment. Fahr's disease is defined as primary familial idiopathic calcification, while Fahr's syndrome is caused by secondary factors ...

hrp0082s4.2 | Recent Advances in Our Understanding of Hypothyroidism | ESPE2014

Novel Role(s) for Immunoglobulin Superfamily, Member 1 (IGSF1) in the Hypothalamic–Pituitary–Thyroid Axis

Bernard Daniel

Background: Immunoglobulin superfamily, member 1 (IGSF1) was originally proposed to function as an inhibin co-receptor in pituitary gonadotroph cells. More recently, however, loss of function mutations in the human IGSF1 gene were linked to a novel syndrome of central hypothyroidism, testicular enlargement, and variable prolactin-deficiency. Igsf1-deficient mice are also centrally hypothyroid, with reduced pituitary thyrotropin-releasing hormone receptor (<em...

hrp0082p1-d3-162 | Growth (2) | ESPE2014

Infliximab Improves Growth in Paediatric Crohn’s disease Only if Commenced Early in Puberty or Prior to the Onset of Puberty

Gangadharan Arundoss , Metcalf Joanna , Giri Dinesh , Irving Sharon , Auth Marcus , Venkatesh Krishnappa , Krishnamurthy Balaji , Blair Joanne C , Didi Mohammed

Background: Crohn’s disease is a relapsing systemic inflammatory disorder with inflammatory bowel disease (IBD) due to up-regulation of pro-inflammatory cytokines including TNFα. More than 80% of newly diagnosed children present with growth failure Paediatric gastroenterology units in the UK submit data to the UK IBD database which can be accessed when required. One aim of current treatment protocols is to promote growth. Studies on the use of anti-TNFα antibodi...

hrp0097p2-189 | Adrenals and HPA Axis | ESPE2023

A rare case of a newborn with congenital adrenal hyperplasia, osteogenesis imperfect and cow’s milk allergy

Mylonaki Eleftheria , Maniadaki Ilianna , Papadopoulou Eleftheria , Karavitakis Manolis , Mihaillidou Eleni , Paraskakis Manolis , Galanakis Manolis

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare pediatric disorder. The classic form occurs in 1:15,000 births worldwide. Osteogenesis imperfecta is a rare bone disease occurring in 1 in 15,000 to 20,000 births. Cow’s milk allergy (CMA) is of the commonest food allergies in early life. Our case presents the co existence of the abovementioned entities in a patient.Case report:</str...

hrp0092p1-235 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Development of a Measure for the Impacts of Achondroplasia on Children's Daily Functioning and Well-Being

Pfeiffer Kathryn M. , Brod Meryl , Viuff Dorthe , Ota Sho , Gianettoni Jill , Leff Jonathan

Background: Research on the impacts of achondroplasia on children's functioning and well-being is limited. The purpose of the study was to investigate the impacts of achondroplasia on children's daily lives to support the development of an impact measure of achondroplasia on children's functioning and well-being.Methods: Individual telephone interviews and one parent focus group were conducted in the United S...

hrp0092p2-16 | Adrenals and HPA Axis | ESPE2019

A Case of Infantile Cushing's Syndrome from McCune Albright Syndrome: The Importance of Multiple-Site Sampling for Genetic Testing

Beng Hui Ng Nicholas , Tay Vanerry LQ , Ooi Delicia SQ , Loke Kah Yin

Case Description: We report a case of a 7-month old Vietnamese boy who presented with failure to thrive and a Cushingoid appearance from 1 month old. There was no history of exogenous steroid use. On examination, height and weight were <3rd centile. He was Cushingoid with motor development delay. There were multiple large café-au-lait lesions over the sacral region but no limb asymmetry to suggest fibrous dysplasia.En...

hrp0098p3-12 | Adrenals and HPA Axis | ESPE2024

An unusual case of remission of clinically overt autoimmune Addison’s disease in a Pakistani girl.

Arshad Kashan , Saddam Hussain Syed , Aftab Sommayya

Background and Objective: Autoimmune Addison’s disease is generally regarded as an irreversible progressive disease leading to the lifelong replacement of glucocorticoids and mineralocorticoids. We are reporting a rare case of a patient diagnosed with clinically overt Addison’s disease who showed recovery of adrenal functions over time.Case presentation: A 10.5-year-old girl was diagnosed with celiac disease ...

hrp0094p1-168 | Growth B | ESPE2021

Mother’s smoking during pregnancy influence intrauterine and postnatal growth - the GrowUp 1990 Gothenburg cohort population

Holmgren Anton , Niklasson Aimon , Aronson A. Stefan , Albertsson-Wikland Kerstin ,

Background/Objective: Smoking during pregnancy is known to influence prenatal/postnatal growth of the offspring. We investigated the impact of smoking in the Swedish reference population for new reference for height, weight and BMI, the GrowUp1990Gothenburg cohort.Material/Methods: The study was based on 1907 healthy children (918girls/989boys) born at term in Sweden with Nordic parents and longitudinal growth measurements. 155girls/180b...

hrp0092p3-58 | Diabetes and Insulin | ESPE2019

Mauriac's Syndrome: A Complication of Poorly Controlled Type 1 Diabetes Mellitus in Childhood and Adolescence

Osokina Irina

Background: Mauriac's syndrome (MS) may occur in patients with poor controlled type 1 diabetes mellitus (DM1), with often ketoacidosis, episodes of hyperglycemia and hypoglycemia, under the dose insulin. MS characterized growth retardation and puberty delay, Cushingoid obesity, moon facies, protuberant abdomen, hepatomegaly with transaminase elevation, dyslipidemia. Now it is a rare syndrome, firstly described by Mauriac in 1930.<str...

hrp0098p2-6 | Adrenals and HPA Axis | ESPE2024

Diagnosis of Cushing's Disease with Desmopressin-Induced Bilateral Inferior Petrosal Sinus Sampling: A Case Report

Bayrak Demirel Ozge , Derya Kardelen Al Asli , Yildiz Melek , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza

Background: Bilateral inferior petrosal sinus sampling (IPSS) is the gold standard for determining the source of hypercortisolism in ACTH-dependent Cushing's syndrome. Traditionally, IPSS is performed with CRH stimulation. Since CRH has been unavailable recently, intravenous desmopressin administration may be preferred during IPSS.Case Report: A 13-year-old boy presented with a weight gain of 10 kg and a decreased h...