ESPE Abstracts

17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) is expressed mostly in the testes and converts the inactive Δ4-androstenedione (A) to testosterone (T). 17β-HSD3 deficiency is a rare autosomal recessive disorder and the most common testosterone biosynthesis defect leading to 46,XY Disorders of Sex Development (DSD). To date, more than 40 mutations of HSD17B3 have been reported. 46,XY patients with 17β-HSD3 deficiency would present with wide variable ...

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...

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: 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...

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: 5α-Reductase is an enzyme that converts testosterone to dihydrotestosterone (DHT) in peripheral tissues. DHT is responsible for the differentiation of male external genitalia. Mutations in the 5α-steroid reductase type 2 gene (SRD5A2) result in incomplete masculinisation of the external genitalia in subjects with a 46,XY karyotype. The clinical spectrum of a 46,XY individual with 5α-reductase deficiency at birth can range from complete femal...

Background: The steroidogenic acute regulatory protein (StAR) has been shown to be essential for steroidogenesis by mediating cholesterol transfer into mitochondria. Inactivating StAR mutations cause the typical clinical picture of congenital lipoid adrenal hyperplasia.Objective and hypotheses: We aimed to identify causative mutations in cases presenting with adrenal failure during early infancy.Method: Consecutive cases with adren...

Introduction: X-linked adrenal hypoplasia congenita (AHC) is caused by mutations of the NR0B1 gene encoding DAX1 on chromosome Xp21. AHC also occurs as part of a contiguous gene deletion syndrome together with Duchenne muscular dystrophy, glycerol kinase deficiency (GKD), mental retardation, or a combination of these conditions. Here, we report a male 5 years old with AHC who presented with adrenal insufficiency, GKD, and duchenne muscular dystrophy due to a mutation in the DA...

Background: Maturity-onset diabetes of the young type 2 (MODY2) is an autosomal dominant inherited disease caused by heterozygous inactivating mutations in the glucokinase (GCK) gene. It mostly presents with mild fasting hyperglycaemia. MODY2 accounts for 2%–5% of all diabetes cases. It is treated with diet only, and complications are extremely rare. We presented here a family with MODY2 caused by a novel heterozygous p.E51*(c.151.G>T) mutation of the GCK gene.<p ...

Background: Attention-deficit hyperactivity disorder (ADHD) is one of the most common psychiatric problems of adolescent and childhood. Methylphenidate is a psychostimulant drug in use of attention-deficit hyperactivity treatment as a first choice modality.Objective and hypotheses: The aim of this study is to evaluate the levels of leptin, ghrelin and nesfatin-1 in relation to slowdown in growth and poor appetite.Method: Total of 8...