ESPE Abstracts

Background: Nicotinamide nucleotide transhydrogenase (NNT) gene mutations have been recently shown to cause familial glucocorticoid deficiency (FGD), by decreasing reactive oxygen species (ROS) detoxification in adrenocortical cells. Affected infants present within the first few months with isolated glucocorticoid deficiency.Objective and Hypotheses: To study the genetic etiology of four cases presenting uniquely with neonatal addisonian crisis (both min...

Background: Turner syndrome (TS) is classically a sporadic cause of short stature and gonadal dysgenesis in girls. We report familial variant TS affecting twelve individuals of both sexes over three generations. Affected children manifest short stature and varying degrees of neurodevelopmental disorder but no visceral abnormalities.Case presentation: A 27-year-old female in her 12th pregnancy presented for 20-week ultrasound. Fetal cardiac and...

Introduction: Congenital adrenal hyperplasia (CAH) is the most common genetic condition in the spectrum of differences of sex development (DSD). Surgery in DSD is a controversial topic and there is no consensus if to perform surgery, how to perform surgery, and when to perform surgery. The current study was designed to evaluate the current practice in CAH related surgical practice in girls.Patients and Methods: All cases...

Introduction: In the rare aromatase excess syndrome aromatase turnover from androgens to estrogens is constitutively increased. Affected males show signs of hyperestrogenism such as feminization (particularly gynecomastia), hypogonadism, and short adult height due to early epiphyseal closure.Case report: Here, we report the different statural growth of two first degree cousins affected by aromatase excess syndrome. Both carried the same heterozygote dele...

Laron's syndrome, or Laron-type dwarfism, is an autosomal recessive disorder characterized by an insensitivity to growth hormone.There are exceptionally low levels of insulin-like growth factor (IGF-1)caused by homozygous or compound heterozygous mutation in the growth hormone receptor gene .It causes severe short stature and can be treated with injections of recombinant IGF-1. Laron syndrome is a rare disorder. About 350 people have been diagnosed with the condition world...

Background: ALS deficiency is characterized by mild short stature, delayed puberty, low serum IGF1, low serum IGFBP3 and undetectable serum ALS levels.Case: A 11.3 years old boy presented with short stature. He was born at term to consanguineous parents and the birth weight was unknown. On physical examination, his height and weight were 130.5 cm (−2.33 SDS) and 25.2 kg (−2.36 SDS) and he was prepubertal. The routine laboratory tests were nor...

Objective: To characterise clinical presentation of congenital isolated ACTH deficiency.Methods and results: Clinical and anthropometric data were obtained. Biochemical liver function parameters, blood glucose, insulin, TSH, free thyroxin (FT4), GH, cortisol, and ACTH levels were analyzed. POMC and TBX19 genes were analysed by Sanger sequencing. The girl was born at full-term with normal weight and length. The parents are cousins. At birth cra...

Background: Clinically, hyperinsulinemic hypoglycemia (HH) can cause apnea, growth retardation and learning disorders. Early diagnosis and meticulous follow-up are of importance to prevent undesired neurological outcomes. Congenital hyperinsulinism results from eight distinct gene defects. These genes include ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, and UCP2. The most common causes are autosomal recessive mutations of ABCC8 and KCNJ11 genes (5).M...

Introduction: The reported occurrence and management of acute adrenal insufficiency (AI) – related adverse events (AE) vary widely between centres and may depend on available resources.Aim: To use the data within the I-CAH Registry to understand the association between the occurrence and management of AI related AE, their management and the availability of local resources.Methods:</st...

Introduction: Despite existing guidelines there is no unified approach to glucocorticoid and mineralocorticoid replacement in congenital adrenal hyperplasia (CAH). Consequently, treatment varies in adults and children as well as across countries.Objective: We used data from the I-CAH Registry to identify geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids of children and adul...