hrp0095p1-159 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Final adult height and bone mineral density of the children who were treated with gonadotropin releasing hormone analogues near the age eight

Bahar Semra , Tolga Ozgen Ilker

Aim: Central precocious puberty (CPP) is defined as premature activation of the hypothalamic–pituitary–gonadal (HPG) axis before the age 8 in girls. Precocious puberty starting at a very young age causes a severe loss in height potential and should be treated with gonadotropin releasing hormone agonists (GnRHa). However, there are controversial results about the benefit of the GnRHa treatment in girls whose CPP is initiated near the age 8. This stu...

hrp0095p1-495 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

A case report of hyperinsulinemic hypoglycemia caused by a heterozygous novel mutation in the insulin receptor gene

Tolga Ozgen Ilker , Bahar Semra , Uyanik Bulent

Introduction: Mutations in the insulin receptor (INSR) gene usually progress with insulin resistance and hyperglycemia. However, rare heterozygous INSR gene mutations that cause hyperinsulinemic hypoglycemia (HH) have also been described. A case with hyperinsulinemic hypoglycemia due to a new variant mutation in the INSR gene, is presented.Case: A 13-month-old male patient was referred to us with complaints of contractio...

hrp0095p1-537 | Multisystem Endocrine Disorders | ESPE2022

A case report of Pituitary Stalk Interruption Syndrome caused by novel compound heterozygous mutations in the KATNIP gene

Bahar Semra , Tolga Ozgen Ilker , Uyanik Bulent

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 ...

hrp0095p2-49 | Diabetes and Insulin | ESPE2022

A case of diabetes and deafness with heteroplasmic mutations in the mitochondrial DNT1 gene

Tolga Ozgen Ilker , Bahar Semra , Uyanik Bulent

Introduction: Diabetes mellitus can develop as a result different etiology. Mitochondrial diseases may also cause diabetes mellitus. However, mitochondrial mutations are generally thought to be accompanied by a severe clinical finding. We present a patient who is determined 80% heteroplasmic deletion in the MT-DNT1 gene, with hearing loss and mitochondrial diabetes, which is quite different from the classical phenotype.Case:</str...

hrp0095p1-302 | GH and IGFs | ESPE2022

A novel heterozygous STAT5B variant in a patient with resistant atopic dermatitis and short stature.

Bahar Semra , Tolga Ozgen Ilker , Uyanık Bulent

Introduction: Growth hormone (GH) exerts its effect through insulin-like growth factor 1 (IGF-I), an intracellular signalling molecule whose production is stimulated by STAT-5b after binding to the growth hormone receptor. STAT-5b deficiency, is characterized by short stature, immune dysregulation and chronic lung disease. And these occur as a result of disruption of the growth hormone axis. Our case is an example of STAT-5b gene mutation, which is a rare dise...

hrp0082p3-d1-704 | Diabetes | ESPE2014

A Case with Neonatal Diabetes and Congenital Hypothyroidism due to Glis3 Gene Deletion

Tolga Ozgen Ilker , Kucukkoc Mehmet , Houghton Jayne , Gokce Selim , Cesur Yasar

Background: Neonatal diabetes is a rare disease having usually a genetic origin. Defects in KCNJ11, ABCC8, INS, GCK, and PDX1 genes are more frequent and may lead non-transient, non-syndromic neonatal diabetes, whereas defects in PTF1A, FOXP3, EIF2AK3, GLIS3, RFX6, and NEUROD1 genes are very rare and may lead neonatal diabetes as a part of a syndrome.Objective and hypotheses: We present a patient with GLIS3 ge...