ESPE Abstracts

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...

Background: Leydig-cell tumours in children are rare, comprising only 4 to 9% of all primary testis tumours in prepubertal males. These boys present with isosexual precocious pseudopuberty characterized by increased testosterone and low gonadotropin levels. We describe two cases and will discuss differential diagnosis and pathogenesis.Case 1: C. was first referred at 8 years old for pubertal development with accelerated growth since 4 years of age. His v...

Introduction: Brain-lung-thyroid syndrome (BATS) is a rare autosomal dominant inherited syndrome that develops due to mutations in the NKX2-1 gene, which is a thyroid transcription factor, and is characterized by respiratory distress in the neonatal period, congenital hypothyroidism, and choreatetosis. Approximately half of affected patients have the complete triad, with 30% affected by the neurological phenotype (motor developmental delay, gait difficulties, choreatetosis, hy...

Background: Raine syndrome (RS) also known as lethal osteosclerotic bone dysplasia, is a rare autosomal recessive bone disorder. Most of patients with RS die within the first days or weeks of life due to pulmonary hypoplasia. The causative gene FAm20C is located on chromosome 7p22.3. FAm20C is one of the genes that regulate phosphate production. Here, we present a case of RS with hypophosphatemic rickets and a new mutation in FAm2</s...

Case presentation: We report the case of Imad, a 2-year- old Algerian boy referred with a 2-month history of polyuria and polydipsia. Diabetes insipidus was diagnosed by confirming hypernatremia with hyperosmolar serum and inappropriately dilute urine. His polyuria and polydipsia improved dramatically using the oral vasopressin analog. The child had no clinical signs of underlying disease, serum tumor markers were not detected and a skeletal survey suggested n...

Introduction: Distal chromosome 15 duplication is a very rare genetic disease, first described in 1974 by Fujimoto et al. The symptoms and physical findings include prenatal and/or postnatal growth retardation, mental retardation, poor speaking abilities, asymmetrical dysmorphic facial features, malformations of the fingers and/or toes and sometimes heart conditions.Case report: We report a case of a 2 years 5 months old girl, born with SGA (uterine grow...

Background: Van Wyk-Grumbach syndrome (VWGS) is a rare diagnosis that should be suspected in children with signs of peripheral precocious puberty and hypothyroidism. It is characterized by multicystic enlarged ovaries, in the presence of long-term severe hypothyroidism. Treatment of VWGS consists of hormonal replacement with levothyroxine. Usually, ovarian cysts and increased ovarian volume subside within an average of 2 months but can persist up to 12 months after treatment.<...

Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is characterized by a triad of megaloblastic anemia, progressive sensorineural hearing loss, and diabetes mellitus (DM). It is due to an inherited mutation in SLC19A2 gene, encoding a high-affinity thiamine transporter 1 in charge of facilitating the uptake of thiamine by the cells. Other manifestations including optic atrophy and stroke are rarely reported. We herein report an extremely rare...

Introduction: Thyroid storm is an acute, life-threatening, emergency in children with thyrotoxicosis. It is extremely rare and could be an initial presentation in previously undiagnosed children. Thyroid storm with diabetes insipidus (DI) has been reported in adults, but no cases have been reported in children. We herein report a child with thyroid storm with transient central DI.Case Report: A 7-year-old girl, presented...

Introduction: Establishing a clear diagnosis in patients with short stature can be challenging. Careful examination and investigation of patients with short stature may identify additional features that help to make a diagnosis or direct genetic testing. We describe a patient with severe short stature with additional features on examination suggestive of KBG syndrome. A subsequent skeletal survey revealed radiological features suggestive of the diagnosis. In a...