ESPE Abstracts

Background: Jacobsen syndrome is a rare genetic condition caused by partial deletion of the long arm of chromosome 11 associated with delayed development, distinctive facial features, bleeding disorder, skeletal abnormalities and endocrine disorders.Case report: We report a rare case of Jacobsen syndrome in 4 year old boy addressed for short stature. Born at term (36 W) with low birth weight (1780 g) and delayed development, his height at presentation wa...

Introduction: Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by unilateral lipomatosis and ipsilateral neurologic/ophthalmic malformation. Jaffe–Campanacci syndrome (JCS) is characterized by the association of café-au-lait spots, axillary freckles, multiple non-ossifying fibromas of the long bones and jaw. Both of ECCL and JCS was associated neurofibromatatosis type 1. We had a case of GH deficiency with combined ECCL and ...

Background: Costello syndrome is a rare congenital disorder with characteristic findings involving multiple organ systems. The Costello Syndrome Family Network estimates that the birth prevalence in the United Kingdom is at least 1/500,000. So far, there has been only one affected individual reported in China.Objective and hypotheses: Diagnose the case of autosomal dominant Costello syndrome by direct squencing of HRAS gene. Analyze the correlation betwe...

Tricho-rhino-phalangeal syndrome Type I (TRPS I) is a rare autosomal dominant genetic disorder clinically characterized by craniofacial and skeletal abnormalities, associated with cone-shaped epiphyses, brachydactyly and short stature. Although patients with TRPS I present various degrees of short stature, there are only four reports of growth hormone deficiency in patients with TRPS I. We present the case of TRPS I and partial GH deficiency. A 15-year-old female was referred ...

Induced overexpression of defined transcription factors has been shown to have a directing effect on the differentiation of embryonic stem cells (ESCs) into specific cell types. Nevertheless, protocols promoting coordinated self-assembly of differentiated cells into distinct morphological units with functional properties reminiscent of organs and tissues in vivo are still very sparse. Our group recently reported efficient rescue of hypothyroidism in athyroid mice tran...

Background: Obesity in childhood is defined by age- and sex-specific BMI cut-off values. However, BMI does not disclose the distribution of fat mass. Increased abdominal adipose tissue is associated with a higher risk of cardio-metabolic disease in adulthood. Thus, precise measurements of abdominal adipose tissue in children may enable early prevention of disease.Objective and hypotheses: To validate measurements of abdominal adipose tissue by anthropome...

Background: Primary IGF1 deficiency (PIGFD) is a rare condition defined by low IGF1 levels, GH sufficiency and absence of secondary causes of growth failure. PIGFD is an approved indication for treatment with recombinant IGF1 (rIGF1). Its genetic causes remain largely unknown.Objective and hypotheses: To elucidate genetic causes of PIGFD.Method: Clinical phenotyping followed by trio-based whole-exome sequencing (WES) in 11 complete...

Background: Pubertal gynecomastia is observed in up to 65% of adolescent males. It is usually idiopathic and tends to regress within 1–2 years, although sometimes pubertal gynecomastia persists.Case presentation and methods: We investigated three adolescent males with isolated persistent pubertal gynecomastia: twin brothers and an unrelated adolescent boy. The twins (17 years) had normal male external genitalia. Biological testing showed normal test...

Background: Partial androgen insensitivity syndrome (PAIS) typically presents with micropenis, penoscrotal hypospadias, bifid scrotum with descending or undescending testes and gynecomastia. It is x-linked recessive disease resulting from mutations in androgen receptor (AR) gene.Objective and hypothesis: To present clinical characteristics of a novel mutation in the AR gene in an adolescent boy with PAIS who presented with gynecomastia ...

Background: The combination of various severe manifestations of hypothyroidism with pseudo muscular hypertrophy is called Kocher Debre Semelaigne syndrome (KDS). KDS is very rare in countries where newborn screening for hypothyroidism is in place. Most of the reports of KDS have come from India and developing countries with only a single report from Europe over last five decades. We present a 7-year-old boy from UK who had short stature and apparent partial lipodystrophy.<...