ESPE Abstracts

Introduction: Panhypopituitarism is a deficiency of two or more pituitary hormones. Etiological causes of panhypopituitarism include pituitary developmental disorders, traumatic damage, inflammatory and neoplastic diseases affecting the pituitary, and vascular disorders. In this very rare condition, symptoms and signs related to anterior and posterior pituitary hormone deficiency can also be seen, as well as symptoms and findings related to etiological factors...

Background/Objective: The olfactory bulb (OB) and pubertal development have a close relationship as they share a common ontogenetic origin. The aim of this study is to analyze the potential relationship between the precocious puberty in girls as a sign of early pubertal timing and their OB volume as an indicator of its functional activity.Design: In the study group (n=125), OB volume, pituitary height, body ...

Introduction: Craniopharyngioma is a low malignant potential tumor of embryological origin of the sellar/suprasellar region. It occurs with various symptoms and signs such as headache, vomiting, vision loss and endocrinological disorders. It was aimed to evaluate the presentation findings and endocrinological disorders in the follow-up in childhood craniopharyngioma cases.Methods: The patients followed up with the diagno...

Introduction: The most common congenital malformations of the scrotum are bifid scrotum, penoscrotal transposition, and ectopic scrotum. Scrotal agenesis is a very rare congenital anomaly characterized by the absence of scrotal rugae in the perineal tissue between the penis and anus. To date, 9 cases with complete scrotal agenesis have been described in the literature. Here, a case with complete scrotal agenesis with MAB21L1 homozygous mutation is presented to...

Context: Olfactory bulb (OB) and eyeball size change depending on age and puberty. There is well-established trade-off between sensory structures of brain such as eye and olfactory bulb.Objective: The aim of this study is to analyze the potential reciprocal changes between OB and eyeball volumes (EV) in girls with precocious puberty (PP), as a sign of early pubertal onset.Design: A...

Introduction: The SLC34A1 gene encodes the NaPi-IIa cotransporter, which plays an important role in phosphate reabsorption in the kidney proximal tubule. Inactivating mutations of this gene cause nephrolithiasis and osteoporosis, together with clinical pictures such as hypophosphatemic rickets type 1, Fanconi renotubular syndrome type 2, and infantile hypercalcemia type 2.Case: A 40-day-old male patient presented with me...

Introduction: Aggrecan, a chondroitin sulfate proteoglycan encoded by the ACAN gene, is an important structural component of the cartilage matrix. Variants in the ACAN gene are associated with a group of skeletal dysplasias called aggrecanopathy, which shows a broad phenotypic spectrum. It has been reported that some heterozygous variants in this gene are responsible for the etiology of familial or idiopathic short stature located at the lightest end of the sp...

Entrance: HOXA gene deletions cause an appearance characterized by short stature, mild developmental delay, characteristic face, small hands and feet, short and large thumbs, and urogenital malformations. Clinical signs may vary according to the content of the deletion region.Case: The case applied to our clinic with the complaint of short stature. It was learned that the patient was born at term 2500 gr and had bilatera...

Introduction: 17 β-Hydroxysteroid Dehydrogenase Type 3 (17β-HSD3) enzyme provides the conversion of ∆4-Androstenedione (A) to testosterone (T) in testicles. 17β-HSD3 deficiency is a rare autosomal recessive cause of 46,XY disorders of sexual development (DSD) and is the most common form of testosterone biosynthesis defects. The external genitalia can vary from normal female appearance to atypical genitalia.C...

Introduction: Although thyroid nodule is seen less frequently in childhood than in adults, it is more likely to be malignant. The aim of this study was to examine the characteristics of the patients followed up for thyroid nodules and to define the patients with malignant potential by laboratory, radiological and cytological evaluations.Method: 100 patients (F/M:63/37) with thyroid nodules followed up in Pediatric Endocr...