hrp0082p3-d3-922 | Pituitary (1) | ESPE2014

A Case of Combined Pituitary Hormone Deficiency (CPHD) due to Anterior Pituitary Hypoplasia

Kvaratskhelia Ekaterine , Rekhviashvili Maia , Metreveli David , Willig Rolf Peter

Background: Multiple anterior pituitary hormone deficiency (MPHD) may present in the newborn period or in early infancy with hypoglycemia, prolonged cholestatic jaundice micropenis, undescended testes due to GH, ACTH, and LH deficiency. Central hypothyroidism is becoming manifest later, less severe than primary hypothyroidism, usually without intellectual impairment. A male patient was admitted to our clinic with severe short stature at the age of 2 years, born with normal len...

hrp0084p2-203 | Adrenals | ESPE2015

Autoimmune Encephalitis – A Newly Recognised Clinical Manifestation of Autoimmune Polyendocrine Syndrome Type 1?

Ferenczova Juliana , Vargova Veronika , Krysl David , Banoova Erika , Sadova Eva

Background: Autoimmune polyendocrine syndrome (APS) type 1 is a rare autosomal recessive disease. The classic features are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Several non-classic presentations of the disease has been described over the last few years. Authors present a case of 14-year old girl with a new serious non-classic presentation.Case presentation: Patient was diagnosed with a mucocutaneous candidiasis...

hrp0084p2-465 | Growth | ESPE2015

Making Adult Height Prediction Complete: Forecasting the Age of the Growth Spurt and the Height and Velocity Trajectories Until Adulthood

Martin David , Mortensen Sofus , Jenni Oscar , Thodberg Hans Henrik

Background: Adult height prediction (AHP) based on bone age appears as an incomplete procedure – it does not reveal the path from the present to the end-point. Growth charts offer little help in this respect because they average over children with different age of growth spurt (AGS).Objective and hypotheses: To extend AHP by also forecasting AGS and the entire height and velocity trajectories until adulthood and displaying this in a growth chart mad...

hrp0084p3-1226 | Thyroid | ESPE2015

A Rare Adverse Effect of Radioactive Iodine Therapy in a Child with Graves’ Disease

Walsh Elizabeth , Brown Marcie Drury , Crudo David , Constantaocs Cathrine

Background: Radioactive iodine (RAI) therapy has become the preferred treatment for Graves’ disease in children. Its use has found favour due to the risk of adverse effects in medical management and the invasiveness of thyroidectomy. Side effects of RAI in adults are well-documented and include dry mouth, sore throat, and neck pain. With its relatively recent application to paediatric patients, there is not a complete understanding of adverse effects in the paediatric pop...

hrp0094p2-456 | Thyroid | ESPE2021

Hashimoto Thyroiditis: long term follow-up from childhood to young adulthood

David Francesco , Casula Letizia , Guzzetti Chiara , Ibba Anastasia , Loche Sandro

Introduction: The evolution of Hashimoto Thyroiditis (HT) has been investigated by several studies both in pediatric and adult age. However, there are limited data on the progression of the disease from childhood to adulthood.Objective: Aim of the study was to describe the evolution of thyroid function in children with HT from childhood to young adulthood.Patients and Methods: The diagnosis of HT was defined by the presence of anti...

hrp0097rfc10.6 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders | ESPE2023

Two novel mutations in the DCAF17 gene in two Palestinian families with primary amenorrhea revealing molecular genetics in Woodhouse-Sakati syndrome & unique presentation

Abu-Libdeh Abdulsalam , Florsheim Natan , Eideh Hasan , Zangen David

Background: Woodhouse-Sakati syndrome (WSS) is an extremely rare autosomal recessive multisystem disease. Ectodermal system findings, such as alopecia and changes in facial skin, endocrinological problems including hypogonadism, hypothyroidism, diabetes mellitus (DM), and decreased levels of insulin-like growth factor I (IGF-I), neurological disorders such as hearing loss and progressive extrapyramidal involvement are the components of this syndrome. The syndr...

hrp0097p1-570 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Elucidating The Genetic Basis of Human Disorders of Sex Development Using Clinic-To-Bench Approach

Florsheim Natan , Renbaum Paul , Levy-Lahad Ephrat , Zangen David

Background: Diseases of sex development (DSD) are rare heterogeneous disorders ranging from infertility (an estimated 15% of couples worldwide have difficulty conceiving), to severe cases including ambiguous genitalia, sex reversal, and gonadal dysgenesis. The genetic basis of DSD remains unknown in 50% of the severe cases. To identify novel genetic causes of DSD, we are investigating patients in which known causative genes have been excluded. Identifying new ...

hrp0098p2-213 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Saliva sex-hormones as an alternative method for assessment of pubertal status

Vinker-Shuster Michal , Ofek-Geva Ella , Fortus David , Yeshayahu Yonatan

Background: Pubertal assessment is based on patient history, physical examination, bone age, blood tests, and in some cases, endocrine “stimulation tests”. Sex hormones are present in saliva and may serve as a cost-effective, simple, and painless alternative for invasive blood or stimulation tests performed at day care units. Previous studies showed correlation between saliva-and-blood levels of sex hormones; However, it is not in routine clinical ...

hrp0097p1-163 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Identification of novel NFKB2 mutation in a Korean boy presenting with muscle weakness

Kim Yoo-Mi , Kim Eun-Hee , Kim Minji , So Hyejin , Hyuk Lim Han

Introduction: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome is a rare condition characterized by symptomatic ACTH deficiency and primary hypogammaglobulinemia, caused by a heterozygous mutation in the NFKB2 gene (MIM#164012) on chromosome 10q24. We report the novel mutation of the NFKB2 gene in a Korean boy presenting with gait disturbance, calf pain, and abnormal thyroid function test.<s...

hrp0095rfc5.6 | Adrenals and HPA Axis | ESPE2022

The unique methylation pattern of a rare Bilateral para-overian Adrenal Rest Tumor in a girl with severe virilization and Nicotinamide Nucleotide Transhydrogenase mutation

Cahn Ranit , Berman Ben , Bauman Dvorah , Mendelson Espen , Abulibdeh Abdulsalam , Florsheim Natan , Zangen David

Background: Patients with NNT (Nicotinamide Nucleotide Transhydrogenase) gene mutations, a rare cause of glucocorticoid and mineralocorticoid deficiency. Adrenal Rest Tumor (ART) in females, reported so far only in noncompliant patients with congenital adrenal hyperplasia and elevated ACTH levels, is very rare (<20 cases world-wide). This study characterizes the pathophysiology, the molecular ontogeny and methylation analysis of a unique ART in a female wit...