ESPE Abstracts

Background: Steroid 5α-reductase catalyzes the conversion of testosterone into the more active androgen, dihydrotestosterone (DHT). In 46, XY patients with recessive mutations in steroid 5α-reductase type 2 enzyme (SRD5A2) gene, the degree of ambiguity ranges from isolated hypospadias to severe undermasculinization. SRD5A2 gene is located on chromosome 2 (p23 region) and is comprised of five exons and four introns.Objective and hypotheses: Mult...

Background: Androgen insensitivity syndrome (AIS) is the most common cause of 46,XY sexual differentiation disorders. Clinical presentation is variable among cases with a range from a complete female to male external genitalia. There is a weak correlation between genotype and phenotype.Aım: Our aim is to report clinical and molecular characteristics of siblings with AIS.Patients and methods: Two siblings newborns with ambiguou...

Background: Although there is considerable literature dealing with the diagnosis, initial management and early complications of meningococcemia, data about late complications is scarce. Growth plates may be influenced permanently by ischemia leading to late orthopedic complications such as leg length discrepancy, angular deformity and distorted body proportion. We present a patient with disproportionate short stature due to late squeal of meningococcemia who was misdiagnosed a...

Background and Objective: Homozygous mutations in the “Centrosomal Protein-19 (CEP19)” gene are extremely rare causes of early-onset severe monogenic obesity. We, herein, report three siblings with CEP19 mutation.Case Presentation and Method: The index case was a 12-years-old female who presented with severe obesity (BMI:62.7kg/m2), metabolic syndrome and diabetic ketoacidosis. Her non-identical twin female s...

Introduction: Pseudohypoaldosteronism type II (PHA II) is an extremely rare disorder characterized by low plasma renin and aldosterone when a normal renal function with hypertension, hyperkalemia, and hyperchloremic metabolic acidosis. PHA II is also known as familial hyperkalemic hypertension or Gordon’s syndrome and is an inherited autosomal dominant. PHA II could be caused by pathogenic variants of WNK1, WNK4, KLHL3, and <em...

Background: Irisin is an adipomyokine secreted by many tissues. Because it has known relationships with the energy metabolism and exercise, its relationships with obesity and type 2 diabetes (T2D) are being focused on. Its relationship with type 1 diabetes (T1D) is unknown.Objective and hypotheses: In this study, the relationships between the serum irisin level and the metabolic control were investigated in adolescents with T1D.Met...

Background: The familial type of isolated GH deficiency (IGHD) is characterized by a variable degree of growth restriction, low but detectable GH serum concentrations. The recessive type 1A and 1B, the autosomal-dominant type 2, and X-linked recessive type 3. Phenotype-genotype correlations are notoriously difficult to be established.Objective and hypotheses: Herein, we described the variable clinical status of a family with a novel GH1 mutation which is...

Objective: This study aims to reveal clinical, hormonal and ultrasound imaging features of patients treated with leuprolide acetate for diagnosis of precoccious puberty.Design: Retrospective analysis of patients with a diagnosis of central precoccious puberty and treated with leuprolide acetate between January 2008 and January 2013.Patients: 81 girls and two boys with early signs of puberty.Results: There was...

Background: Idiopathic hypogonadotropic hypogonadism may be normosmic (nIHH) or it may be associated with anosmia, which is known as Kallmann syndrome (KS). First mutation GNRH1 was described in 2009 in patients with nIHH. Mutations of the human GNRH1 gene are a very rare cause of nIHH, with only six mutations so far described.Case: The proband is a 11.3-year-old boy who first presented at age 1 with micropenis and cryptorchidism. His p...

Background: A 5 years and 10 months boy presented with pubic hair, recent penile growth, aggressive behaviour and rapid growth of height. Antenatal, perinatal, and developmental history was unremarkable. There was no family history of precocious puberty. His height and weight were 128 cm (2.24 S.D.) and 25 kg (1.55 S.D.) respectively. Vital signs were normal. He was Tanner 2 for pubic hair and his stretched penis length was 11 cm, right testis vol...