ESPE Abstracts

Background and Objectives: Pseudohypoaldosteronism (PHA) is a rare condition characterized by hyponatremia, hyperkalemia, metabolic acidosis and high plasma aldosterone level. Pseudohypoaldosteronism secondary to gastrointestinal losses is rare in the pediatric population. We present a case with secondary pseudohypoaldosteronism due to excessive gastrointestinal losses through ileostomy.Methods: A 1.5 year-old-male child...

Background: Ganglioneuromas (GN) are rare benign tumours arising from the neural crest cells and it is equally rare to find them arising from the adrenal gland. We report a case of a 10-year old boy with an incidentally identified adrenal GN.Case report: A 10-year old boy had presented with the complaints of excessive weight gain noticed by the parents since the age of 2 years. There were no other complaints except for sleep apnea. A strong genetic histo...

Background: Autosomal recessive omodysplasia is considered a rare skeletal dysplasia characterized by severe micromelia with shortening and distal tapering of the humeri and femora.Objective and hypothesis: To report the prenatal findings of a patient with autosomal recessive omodysplasia, a rare condition characterized by disproportionate short stature.Population and/or methods: We performed a description of the case along with a ...

Introduction: Adrenal insufficiency can be caused by different factors. Biotin deficiency is either nutritional or related to synthesis/recycling defects. We are reporting a rare case of adrenal insufficiency complicating a late diagnosis of holocarboxylase synthetase deficiency in an infant who also had protein-S-deficiency, later thought to be secondary.Case: Term female infant born, to non-consanguineous parents, in good condition wit...

Background: Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive disorder, due to mutations in the leukemia inhibitory factor receptor (LIFR) gene. It is characterized by bowed-long bones, joint restrictions, dysautonomia, respiratory and feeding difficulties leading to death during infancy. In SWS survivors beyond 2 years of age, orthopedic problems are the main concern e.g. spinal deformations, osteoporosis and recurrent spontaneous fra...

Introduction: Virilization and hirsutism are clinical findings of androjen excess in females mostly due to polycystic ovary syndrome, although androgenic drugs, nonclassic congenital adrenal hyperplasia and androgen secreting adrenal/ovarian lesions are also implicated. 46, XX ovotesticular disorder of sex development (DSD) is the rarest form of DSD with an incidence of less than 1 in 20000.Case report: A 15-year-old ado...

Introduction: Congenital adrenal hypoplasia, a rare cause of childhood primer adrenal insufficiency, is caused by defects in transcription factors involved in the development of adrenal gland. One of them is the NROB1 (DAX1) gene, localized in Xp21.2. DAX1 mutations have been identified that cause X-linked adrenal hypoplasia congenita. Infants affected with X-linked adrenal hypoplasia congenita may present with salt-wasting, micropenis or cry...

Introduction: Aromatase deficiency is a rare cause of autosomal recessive 46, XX disorders of sex development (DSD) due to CYP19A1 gene mutations. The affected patients cannot have a normal estrogen biosynthesis. It is characterized by low serum estrogen, increased gonadotropins, and ovarian cysts. Herein, we report a new case with aromatase deficiency.Case Report: A 1-month-old girl was referred due to cliterom...

Background: Pubertal growth, age of puberty onset and pubertal spurt duration are correlated to final height (FH). Few data are available in subjects with rare genetic syndromes.Objective and hypotheses: To evaluate pubertal pattern and its influence on FH in subjects with different genetic syndromes including the effect of GH-therapy for GH deficiency (GHD) and GnRH analogs for precocious puberty (PP).Method: We studied for growth...

Background: Proprotein convertase 1/3 (PC1/3) deficiency, an autosomal-recessive disorder caused by rare mutations in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene, has been associated with severe malabsorptive diarrhea and certain endocrine abnormalities.Objective and hypotheses: To date, only 13 subjects with PC1/3 deficiency have been reported, now we want to report a new patient who was diagnosed PC1/3 deficiency with novel PCSK1 mut...