ESPE Abstracts

Background: Measuring testicular volume (TV) by orchidometer is a standard method of pubertal staging in boys. A paucity of evidence exists as to its inter and intra-user reliability and the impact of clinicians’ gender, training and experience on the accuracy of measurements.Objective and hypotheses: We engineered prosthetic models of different size testes to investigate the reliability of TV estimation.Method: The study was ...

Background: Approximately 15 million children are born preterm worldwide yearly.Objective and hypotheses: To evaluate spontaneous growth during the first 8 years of life.Hypotheses: Preterm born children have spontaneous recovery of weight and height in the first 8 years of life.Method: Measurements at birth, 6, 12 and 24 months of corrected age and at recall [6.4±0.5 years (5.2–8.0)]. Weight, lengt...

Background: Telomere length at birth is a major determinant of telomere length at later ages, up into senescence. However, the prenatal setting of telomere length is poorly understood. Individuals born large are at lower risk for later-life disorders, such as diabetes, than those born small, a feature of their longer health span being a higher lean mass that provides more muscle strength and is already present in infancy.Objective and hypotheses: To asse...

Introduction: Sex determining region Y (SRY gene) located in chromosome Yp11.3, initiate gonadal differentiation into testes, which subsequently leads to development of Wolffian duct, male external genitalia, and regression of Mullerian duct. Not only SRY, SOX9, FGF9, DAX1, WT1, RSPO1, and SOX10 contribute for gonadal differentiation. Imbalance of expression of above genes in the absence of SRY leads to 46, XX testicular DSD. We describe a case of 46...

Introduction: The wide aromatization of androgens during puberty is responsible for the rapid bone maturation at this age. In this context, the use of aromatase inhibitors (AIs) has been justified by the potential to slow down the advancement of bone age and thus improve growth. For more than two decades, studies have pointed out the validity of AIs to improve the predicted final height (PFH). However, data on near-final height (NFH) of children treated with A...

Objective: To determine the mutation in the SRY gene in a 46,XY complete gonadal dysgenesis patient with bilateral gonadoblastoma and coexisting dysgerminoma. Evaluate the functional consequence of mutated SRY gene in the tumor risk of 46,XY DSD.Methods and Materials: The proband was a 13-year-old girl who was admitted for examination due to undeveloped secondary sexual characteristics. She had no breas...

Background: Children with familial forms of central diabetes insipidus (CDI) display polyuria and polydipsia within the first years of life.Objective and hypotheses: We hypothesize that children with an early-onset idiopathic CDI might be affected by de novo genetic mutations.Method: Eleven children aged between 1 month and 7 years with polyuria and polydipsia and negative family history were enrolled. In nine of them with...

Background: Children with familial forms of central diabetes insipidus (CDI) display polyuria and polydipsia within the first years of life.Objective and hypotheses: We hypothesize that children with an early-onset idiopathic CDI might be affected by de novo genetic mutations.Method: Eleven children aged between 1 month and 7 years with polyuria and polydipsia and negative family history were enrolled. In nine of them with...

Background: There are few reports describing proximal deletions of chromosome 20p, making it difficult to predict the likely consequences of the deletion in this area. One report has described a proximal 20p11.2 deletion associated with panhypopituitarism, craniofacial dysmorphism, a small phallus with a semi bifid scrotum, and bilateral widely separated first and second toes. The only other report has demonstrated neurodevelopmental abnormalities associated with band 20p11.2 ...

Background: The inheritable component of familial Papillary Thyroid Cancer (fPTC) was recently attributed to monogenic defects in a reduced number of genes including DICER1. DICER1 codes for a ribonuclease of the RNaseIII family essential for the biogenesis of microRNAs.Objective and hypotheses: We aimed to identify germline and/or somatic mutations in DICER1 in a familial pedigree with PTC, multinodular goiter (MNG) and other ...