ESPE Abstracts

Introduction: Patients carrying homozygous IGF1 loss-of-function mutations are extremely rare and show severe pre- and postnatal growth failure, microcephaly, developmental delay, retrognathia and sensorineural deafness. Heterozygous variants in IGF1 appear to be more common in short stature, but only few cases have been reported in detail. Therefore, clinical features and growth response to recombinant human growth hormone (rhGH) therapy are...

Objective: To describe clinical, laboratory and genetic characteristics of 42 short children from 34 consanguineous Turkish families.Design: Descriptive case series.Methods: After collecting clinical information, DNA samples were analysed in three European laboratories. In 18 children (12 families) suspected of a genetic defect in the growth hormone (GH)-insulin-like growth factor ...

Background: Both The Endocrine Society and the World Professional Association for Transgender Health (WPATH) published guidelines for the treatment of children and adolescents with gender dysphoria (GD). The guidelines recommend the use of GnRH agonists in adolescence to suppress puberty, and the use of cross-sex hormones starting around age 16 for eligible patients. In actual practice, there is no consensus whether to use these early medical interventions. The aim of our stud...

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...

Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked and multisystem disorder with clinical symptoms of congenital cataracts, severe mental retardation, hypotonia, areflexia, and incomplete Fanconi syndrome of the proximal renal tubules. We report a 15-year-old short stature male with a severe form of OCRL syndrome, diagnosed based on bilateral congenital cataract, proteinuria, tubulopathy, and dysmorphic findings. The physical examination revealed a height of 152 cm (-2.7...

Introduction: Among children with short stature, some show persistent IGF-I levels <-2.0 SDS despite a normal growth hormone (GH) response in a stimulation test. This may be caused by conditions that could benefit from recombinant human GH (rhGH) therapy (e.g. GH neurosecretory dysfunction, bioinactive GH, partial GH insensitivity). Therefore, the IGF-I generation test (IGFIGT) was implemented in 2006 using a national, standardized protocol. Children with a...

Abstract Withdrawn...

Background: Male preterm infants are at increased risk of neonatal mortality when compared to their female counterparts. The mechanisms explaining this male disadvantage are not fully elucidated yet.Objective and hypotheses: To compare glucocorticoid metabolite excretion in urine obtained at day 10 between male and female infants born with a very low birth weight (VLBW; i.e. <1500 g). We hypothesized that male preterm infants have impaired adrenocort...