ESPE Abstracts

Background: 17β-Hydroxysteroid Dehydrogenase3 (17b-HSD3) deficiency is a rare autosomal recessive disorder, caused by a mutation of the HSD17B3 gene. The phenotypic spectrum ranges from normal-appearing female external genitalia to microphallus with hypospadias and variable degrees of genital ambiguity. 17b-HSD3 deficiency phenotype is variable, leading to misdiagnosis especially with partial androgen insensitivity syndrome and 5alfa reductase deficiency.<p c...

Background: Approximately 10-15% of small for gestational age (SGA) newborns are at risk of having subnormal growth and persistent short stature. It is postulated that a large amount of persistent short stature results from genetic abnormalities, which are commonly characterized by dysmorphic features and developmental disorders.Aim: To uncover the genetic etiology of syndromic short stature children born SGA.<p clas...

Background: Patients with congenital adrenal hyperplasia (CAH), due to 21 hydroxylase (OH) deficiency may develop an adverse cardiovascular risk profile as reported by few previous studies.Objective and Hypotheses: Blood pressure (BP) and echo parameters in children with CAH due to 21-OH deficiency were evaluated.Method: This cross-sectional study included 53 children. BP, echocardiographic left ventricular functions as well as gro...

Background: Deficiency of one or more pituitary hormones, often with growth hormone (GH) deficiency, is defined as multiple pituitary hormone deficiencies (MPHD) or congenital hypopituitarism (CH). CH cases are mostly sporadic and have a prevalence of 1/3000-4000 live births. There are many known and yet unknown molecular pathways explaining the complex structure and functions of the pituitary gland. Many different gross and small sequence variants in the gene...

Introduction: Short stature is a multifactorial condition caused by both genetic and environmental factors. Genetic causes include chromosomal disorders and diseases inherited by monogenic and multifactorial inheritance. The purpose of genetic evaluation in short stature is not only for diagnosis, but also to provide additional information to the patients and their families about prognosis of the disease, treatment approaches and genetic counseling.<p clas...

Background: Aromatase excess syndrome (AEXS) (OMIM 139300) is a rare condition characterized with gynecomastia in boys and macromastia in girls. Estrogen excess in boys can lead to prepubertal and pubertal gynecomastia, bone age progression and short adult stature. While most of girls are usually asymptomatic, there are few reported female patients with excessive breast growth, early puberty, menstrual irregularities, and short adult stature. Male and female children with AEXS...

Background: Penile length is used to assess the external genitalia and abnormalities in external genitalia, e.g. macro and micro-penis. Early diagnosis of abnormal penile size is crucial, but proper assessment is mandatory to identify the normal population-specific, age-appropriate reference ranges.Objective: Our study aimed at assessment of stretched penile length values for prepubertal Egyptian boys aged five to nine y...

Introduction: Autism spectrum disorder (ASD) consists of a pattern of persistent deficits in social communication and interaction across multiple contexts together with restricted, repetitive patterns of behavior, interests or activities. In the general population autistic traits can be found more frequently in males than females. This male predominance indicates that high androgen levels may prenatally have influence on development of autistic traits.<p c...

Background: Diabetic nephropathy (DN) is a major microvascular complica-tion of type 1 diabetes mellitus (T1DM). Homocysteine levels have been found elevated in T1DM patients with DN due to several causes, including dietary deficiencies of folic acid and B Vitamins. Hyperhomocysteinemia induces renal injury and is associated with increasing urinary albumin excretion in patients with diabetes. We therefore performed a randomized-controlled trial of oral supplem...

Congenital adrenal hyperplasia (CAH) patients have a higher frequency of obesity, visceral adiposity, hyperinsulinism, insulin resistance and hyperandrogenism. There is increasing evidence that low vitamin D status is associated with impaired β-cell function, insulin resistance and impaired glucose tolerance.Objectives: This pilot aimed to determine the status of serum 25 (OH) D levels in CAH female patients who are followed up in Diabetes Endocrine...