hrp0097p2-49 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Case series: WT 1 mutation- an important differential in 46, XY disorders of sexual development (DSD)

Jebaseeli Hoole Thabitha , Siriwardne Dinendra , Naotunna Chamidri , Jayasundara Imalka , Atapattu Navoda

The Wilms' Tumour (WT1) gene is thought to play an important role in nephrogenesis, genitourinary development, and sex determination. We report three cases followed up in a tertiary care center in Sri Lanka. All three patients were referred for evaluation of ambiguous genitalia (stretched penile length <= 2cm, penoscrotal hypospadiasis in all three patients. Patient one had bilateral palpable testes in inguinal canal. Patients two and three did not have any palpable te...

hrp0098p3-37 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

A Case of Intravenous Pamidronate Treatment for Steroid-Induced Osteoporosis in a Patient with Rhematic Arthritis

Seo Ji-Young , Sun Choi Yun

Intravenous pamidronate is the most commonly prescribed bisphosphonate in pediatrics and most data on efficacy and safety of pamidronate comes from studies on Osteogenesis imperfecta. We describe a case of a 14-year-old boy who presented with steroid induced osteoporosis. He had been taking Solondo (Prednisolone) and Methotrexate for rheumatoid arthritis since the age of 4, and he was experiencing severe short stature and bone pain. He was unable to ambulate independently due ...

hrp0089p3-p011 | Adrenals and HPA Axis P3 | ESPE2018

Severe Hyponatraemia with Absence of Hyperkalaemia in a Patient with Addison’s Disease

Doneray Hakan , Ozden Ayse , Kizilelma Nagihan Erol

Objective: Autoimmunity of the adrenal gland, also known as Addison’s disease, is characterised by cell mediated immune destruction of the adrenal cortex. We present a child with Addison’s disease who has severe hyponatraemia and normokalemia, which led to an inappropriately low index of suspicion initially at presentation.Case: A 12-year-old boy diagnosed with adrenal deficiency was admitted to hospital with 2 weeks of vomiting, fatigue and we...

hrp0086p2-p177 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Cinacalcet Treatment in a Child with Concurrent Juvenile Idiopathic Arthritis and Hypocalciuric Hypercalcemia

Hacihamdioglu Bulent , Delil Kenan , Ozkaya Ozan

Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogeneous condition resembling primary hyperparathyroidism but not curable by surgery. Cinalcelcet may improve symptoms some patients but limited experienced especially in children. A 10 years old child evaluated by uveitis, sacroileitis, spondyloarthritis and diagnosed as HLA-B27 positive juvenile idiopathic arthritis (JIA). Also at the same time he evaluated by high calcium, low phosphate and inappropriately hig...

hrp0082p3-d1-881 | Perinatal and Neonatal Endocrinology | ESPE2014

A Case of Hyperinsulinism/Hyperammonemia Syndrome

Shim Young Suk , Jeong Hwal Rim , Lee Hae Sang , Lim Jung Sub , Hwang Jin Soon

Background: Hyperinsulinism/hyperammonemia (HI/HA) syndrome is a form of congenital hyperinsulinism (CHI) caused by a mutation in the GLUD1 gene. It is characterized by hyperinsulinemic hypoglycemia accompanying hyperammonemia.Objective and hypotheses: We report HI/HA syndrome with a 4-month-old male who hypoglycemic seizure.Method: A 4-month-old male infant presented with seizure caused by fasting-induced hypoglycemia. At the time...

hrp0095p1-360 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Somatostin analogs in a 15 year old boy with gigantism

Hernandez Claudia , Rodriguez Saa Magdalena , Fernandez Ivana , Figurelli Silvina , Daly Adrian , Guitelman Mirta

Introduction: Pituitary gigantism is caused by a somatotroph pituitary tumor that occurs before epiphyseal closure and is associated with increased morbidity due to the systemic effects of chronic hormonal excess. It is an extremely rare disease, with an estimated incidence of 8 per million person-years. Therapeutic modalities for pituitary gigantism are the same as those for acromegaly and include surgery, medication and radiation. Medical treatment plays an ...

hrp0095p2-14 | Adrenals and HPA Axis | ESPE2022

The first case of pediatric Cushing disease in Serbia

Panic Zaric Sanja , Vukovic Rade , Milenkovic Tatjana , Mitrovic Katarina , Todorovic Sladjana , Ristic Snezana , Stajic Natasa , Putnik Jovana , Paripovic Aleksandra , Vukomanovic Vladislav , Ninic Sanja , Prijic Sergej , Popovic Sasa , Cerovic Ivana , Kitic Ivana , Pasic Srdjan , Minic Predrag , Rodic Milan , Kuzmanovic Milos , Jovic Milena , Djordjevic Milosevic Maja , Pekic Djurdjevic Sandra , Petakov Milan , Milicevic Mihajo , Jovanovic Milan

Background: The definition of Cushing disease (CD) is hypercortisolism caused by excess adrenocorticotropic hormone (ACTH) secretion by a pituitary corticotrope adenoma. It is extremely rare in the pediatric population and requires rapid diagnosis and early management.Case presentation: A 14-year old boy was hospitalized because of sudden onset of chest pain, loss of consciousness, elevated cardio-specific enzymes, and s...

hrp0095p2-72 | Diabetes and Insulin | ESPE2022

A rare case of Type 1 Diabetes preceded by Hashimoto thyroiditis and followed by Multiple Sclerosis

Karabouta Zacharoula , Bisbinas Vasiliki , Evangeliou Athanasios

Introduction: Type 1 Diabetes(T1) and autoimmune thyroid disease(AITD) can occur concomitantly. Multiple sclerosis(MS), a chronic condition resulting from dysfunction of the immune system, may co-occur with T1D.Aim: We present a 17-year-old boy presented with AITD at 10y old and within seven years developed T1D and MS.Subjects and methods: The patient presented at the age of 10y ol...

hrp0095p2-106 | Fat, Metabolism and Obesity | ESPE2022

Identification of a novel point mutation in APOB gene in a patient with hypobetalipoproteinemia

Yun Park So , Sik Kim Heung , Lee Donghyun , Kang Seokjin

Familial hypobetalipoproteinemia (FHBL) is an autosomal codominantly inherited disorder of lipid metabolism characterized by <5th percentile plasma levels of LDL cholesterol or total apolipoprotein B (apoB). LDL cholesterol level is usually between 20-50 mg/dL. FHBL results from mutations in APOB, PCSK9 gene. Patients with homozygous APOB-related familial hypobetalipoproteinemia (APOB-FHBL) may have symptoms of fat malabsorption, steatorrhea, diarrhea, failure to thrive, de...

hrp0092p1-91 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Panhypopituitarism Due to a Novel Heterozygous IVS11-2AC(c.1957-2AC) Mutation in GLI2 Gene

demiral meliha , unal edip , kardas burcu , demirbilek hüseyin , ozbek mehmet nuri

Objective: Glioblastoma 2 (encoded by GLI 2 gene), is an activating zinc-finger transcription factor, involved in the Sonic Hedgehog pathway and embryogenesis of diencephalon and distal extremities Heterozygous mutations of GLI2 gene cause a wide range of clinical phenotype known as holoprosencephaly and holoprosencephaly-like syndrome, pituitary insufficiency, mid-facial hypoplasia, and polydactyly. We, herein, report a novel heterozygous IV...