ESPE Abstracts

Aims: The migration from one cultural milieu to another has drastically increased cardiovascular risk factors and disease rates. We studied the prevalence of overweight and obesity, and hypertension among adolescents of Ethiopian origin who immigrated to Israel, as well as on Israeli born children of Ethiopian origin.Methods: Adolescents aged 16-19 years, who were medically examined prior to mandatory military service in...

Background: Orthodenticlehomeobox 2 (OTX2) is a transcription factor implicated in pituitary, ocular, and craniofacial development. To date, more than 30 mutations in OTX2 have been described in congenital hypopituitarism (CH) with or without ocular malformation. The pituitary phenotype varied from isolated GH deficiency (IGHD) to Combined Pituitary Hormone Deficiency (CPHD). However, CPHD including ACTH deficiency from neonatal period was rare among the previous reports. Here...

Background: Sex chromosome DSD constitute an important category in the definition of DSD.Objective and hypotheses: The study included 379 patients comprising a wide spectrum of presenting features, associated with different arrays of chromosomal abnormalities aiming at. Studying the prevalence of Sex chromosomal abnormalities among DSD patients.Method: Patients were subjected to detailed clinical examination, pubertal staging, cyto...

Background: Sex Cord Tumour with Annular tubules (SCTAT) is a rare ovarian benign tumour accounted approximately for 5% of ovarian tumour. SCTAT is an oestrogen producing ovarian tumour and can cause precocious puberty. For SCTAT, oophorectomy is recommended as the first-line therapy. Since SCTAT has a high rate of recurrence, it is clinically important to find a monitor method that can detect cancer recurrence in an early stage. In the previous reports, E2 and anti-mullerian ...

Key words: Childhood, Obesity, Periaortic fat thickness, Echocardiography, Cardiovascular risk.Aim: To assess the periaortic fat thickness (PAFT) by echocardiograpy in a cohort of children with simple obesity and to evaluate its relationship to clinical and metabolic cardiovascular risk factors.Methods: Fifty children and adolescents with simple obesity and 25 healthy sex and age m...

Background: Pituitary abscess is a rare disorder, representing less than 1% of pituitary lesions. Preoperative diagnosis is often difficult due to non-specific symptoms and image findings.Case Report: Here, we report the case of a 10-year-old girl with a pituitary abscess. She presented with polyuria and polydipsia and headache for the past year. Magnetic resonance imaging revealed polycystic lesion in the sella turcica ...

Background: Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR and characterized by defect in adrenal and gonadal steroidogenesis and lipid droplet accumulation in steroidogenic cells. 46,XY patients with classic LCAH typically present with female-type external genitalia, while those with nonclassic LCAH have masculinized external genitalia. The rarity of the nonclassic form precludes the clarification of pubertal and reproduc...

Background: Wiedemann–Steiner syndrome (WSS) is a rare autosomal dominant disorder characterized with hypertrichosis cubiti, dysmorphic facial appearance (hypertelorism, thick eyebrows, and narrow palpebral fissures), psychomotor delay, and short stature. WSS is caused by a mutation in the KMT2A gene. The timing of secondary sexual characteristics in patients with WSS is not well known. To our knowledge, two patients (one boy and one girl) with W...

Background: Anti-Mullerian hormone (AMH) is produced by Sertoli cells and signals through two transmembrane receptors (AMHR), specific type II and type I, leading to regression of Mullerian ducts (uterus and fallobian tubes) during fetal male sex differentiation. Mutations of AMH and AMHR-II genes lead to persistence of Mullerian ducts in males. These conditions are transmitted in a recessive autosomal pattern and are symptomatic in 46,XY phenotypic males.<p class="abstext...

Background: Partial Androgen Insensitivity Syndrome (PAIS) is characterized by varying degrees of masculinization defects due to impaired androgen action, resulting in a wide range of physical and psychological phenotypes.Case 1: 18-year-old with a male social gender. The patient presented with hypospadias, micropenis, and cryptorchidism during the neonatal period, and received testosterone therapy during infancy, but sh...