hrp0094p1-79 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Concurrent hyperinsulinism and hypopituitarism in a 22 month old child due to a novel FOXA2 mutation

Kilci Fatih , Hurmuzlu Kozler Selen , Jones Jeremy , Ceylaner Serdar , Mine Cizmecioğlu Jones Filiz ,

Introduction: Co-existence of congenital hypopituitarism and congenital hyperinsulinemia is extremely rare. We present a case of congenital hypopituitarism and hyperinsulinemic hypoglycemia with a novel FOXA2 mutation.Case: A 22-month-old girl was referred to pediatric endocrinology due to short stature. She was the first child of healthy, non-consanguineous parents with no relevant family history. Delivery was by cesarean secti...

hrp0094p2-474 | Thyroid | ESPE2021

Recurrent fractures in a child with Graves' disease

Kilci Fatih , Jones Jeremy , Çizmecioğlu Jones Filiz Mine

Introduction: Graves' disease is the most common paediatric cause of hyperthyroidism. Although hyperthyroidism has been reported to cause a decrease in bone mineral density (BMD), its association with recurrent bone fractures is extremely rare.Case: A 10-year-old male patient, who had a pre-existing 7-year diagnosis of autism spectrum disorder, presented to emergency with right leg pain that started after collision with an armchair. On initial exami...

hrp0094p2-42 | Adrenals and HPA Axis | ESPE2021

A case of adrenal insufficiency during the course of multisystem inflammatory syndrome in children (MIS-C)

Kilci Fatih , Kozler Selen Hurmuzlu , Jones Jeremy , Doğan Kenan , Aydın Duygu , Mine Cizmecioğlu Filiz ,

Introduction: Multisystem inflammatory syndrome in children (MIS-C) is associated with Covid-19. MIS-C was first reported in April 2020 with similar symptoms to Kawasaki disease and has several treatment options, one of which is glucocorticoids.Autopsy studies in Covid-19 patients have shown degenerative adrenal changes.It has been reported that rarely Covid-19 may affect adrenal function and cause both primary and secondary adrenal insufficiency.Here we prese...

hrp0094p2-165 | Diabetes and insulin | ESPE2021

Co-existence of new onset diabetic ketoacidosis with severe hypertriglyceridemia in a 9 year old girl.

Kilci Fatih , Kozler Selen Hurmuzlu , Jones Jeremy , Cizmecioğlu Jones Filiz Mine ,

Introduction: Insulin regulates the activity of lipoprotein lipase, the enzyme responsible for triglyceride metabolism. Although mild hypertriglyceridemia is seen in diabetic patients, severe hypertriglyceridemia (>1000 mg/dl) is extremely rare in the pediatric population. We present a case of co-existence of new onset diabetic ketoacidosis (DKA) with severe hypertriglyceridemia, together with therapeutic outcome.Case: A 9-year-old, ...

hrp0094p2-478 | Thyroid | ESPE2021

A child with anti-thyroid arthritis syndrome

Kilci Fatih , Sönmez Hafize Emine , Jones Jeremy , Közler Selen Hürmüzlü , Çizmecioğlu Jones Filiz Mine

Introduction: Anti-thyroid arthritis syndrome (AAS) is a rare complication that may occur in patients treated with anti-thyroid drugs. Presentation is variable and may include myalgia, arthralgia, skin rash, high fever, and polyarthritis. Herein, we present a girl diagnosed with AAS. Case report: A 9-year-old girl was admitted to emergency complaining of fever and arthralgia. She was the second child of non-consanguineous healthy parents. She had been d...

hrp0097p1-29 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

An adolescent boy with PLS3 mutation causing severe thoracic kypho-scoliosis

Kilci Fatih , Jones Jeremy , Gürpınar Gözde , Koçyiğit Esra , Çakır Özgür , Ceylaner Serdar , Alanay Yasemin , Mine Çizmecioğlu-Jones Filiz

Introduction: Mutations of the PLS3 gene (MIM 300910), encoding plastin 3, are an extremely rare cause of osteogenesis imperfecta (OI). It has an X-linked inheritance and is characterized by early-onset osteoporosis and kyphosis, which can cause compression fractures, especially in the thoracic vertebrae. Although there are reports showing that bisphosphonates are effective in improving the bone mineral density of patients with PLS3 variants,...

hrp0097p1-214 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Vitamin-D Dependent Rickets: a case series with presentation, clinical features and long term follow up

Kilci Fatih , Gürpınar Gözde , Koçyiğit Esra , Hürmüzlü-Közler Selen , Jones Jeremy , Mine Çizmecioğlu-Jones Filiz

Introduction: Vitamin D-dependent rickets (VDDR) describes a group of genetic disorders characterized by early-onset rickets that develops due to insufficient concentration of active forms of vitamin-D or unresponsiveness to active vitamin D. The aim of this study was to share the clinical features and long-term outcome of cases followed up in our center with the diagnosis of either VDDR-Type-1 and VDDR-Type-2.Method: Pr...

hrp0097p1-223 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

A rare cause of hypoparathyroidism: Barakat syndrome

Kilci Fatih , Gürpınar Gözde , Koçyiğit Esra , Hürmüzlü-Közler Selen , Jones Jeremy , Mine Çizmecioğlu-Jones Filiz

Introduction: Barakat syndrome, also known as HDR syndrome (OMIM 146255), is a clinically heterogeneous, rare, autosomal dominant genetic disorder, characterized by the triad of hypoparathyroidism (H), deafness (D), and renal disease (R). The phenotypic features are attributed to mutations of the GATA3 gene, which encodes a transcription factor essential for embryonic development of the parathyroid glands, auditory system, and kidneys. Here, we report...

hrp0097p1-416 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Treatment dilemma in a prepubertal patient with ACAN mutation but without advanced bone age

Hürmüzlü Közler Selen , Gürpınar Gözde , Kilci Fatih , Koçyiğit Esra , Alanay Yasemin , Jones Jeremy , Mine Çizmecioğlu Jones Filiz

Introduction: Aggrecan is a major proteoglycan component of the articular and growth plate extracellular matrix, encoded by the ACAN gene (MIM: 155760). Although short stature and various dysmorphic findings are observed in individuals with ACAN mutations, the relationship between genotype and phenotype is not clear.Case: A 6.75-year-old pre-pubertal girl presented with disproportionate short stature. She was full term f...

hrp0097p1-529 | Growth and Syndromes | ESPE2023

A Rare Cause of Pathological Tall Stature: Luscan Lumish Syndrome

Hürmüzlü Közler Selen , Kilci Fatih , Gürpınar Gözde , Koçyiğit Esra , Jones Jeremy , Mine Çizmecioğlu Jones Filiz

Introduction: Luscan-Lumish syndrome (LLS) is a postnatal overgrowth syndrome characterized by macrocephaly, mental retardation, seizures, postnatal overgrowth, and developmental delay, caused by a heterozygous mutation in the SETD2 gene on chromosome 3p21, which exhibits autosomal dominant inheritance.Case Report: A ten-year-old girl presented with menarche. She was born to healthy non-consanguineous parents at 37 weeks...