Endocrine Abstracts

Background: Growth hormone (GH) deficiency(GHD) in childhood is associated with impairment in linear growth. GH therapy enables the achievement of normal adult height in most cases. The response is variable and factors influencing height outcome are still not clearly defined.Objective: To evaluate near adult height (NAH) in a single center cohort of childhood onset GHD patients treated with GH and investigate main predictors of final height (FH).<p c...

Background: There is concern that adolescents with childhood-onset GHD (COGHD) and persistent GH deficiency may be exposed to multiple metabolic risks after GH treatment withdrawal at the attainment of final height (FH).Aim: Aim of our study is to retrospectively compare growth response and metabolic profile in isolated idiopathic COGHD adolescents with permanent GH deficiency in comparison to GHD subjects who normalized their GH response at transition p...

Introduction: Subclinical hypothyroidism (SH) is characterized by serum TSH levels above the upper limit of the reference range, in the presence of normal serum concentrations of total T4 and free T4. Associ-ation between SH in childhood and adverse neurocognitive outcomes remains controversial.Objective: To evaluate the intellectual outcome of children with SH before and after 2 years of treatment with levothyroxine (L-T4).Methods...

Background: The management of subclinical hypothyroidism (SH) is still challenging in particular for mild forms with TSH levels ranging between 4.5 and 10 mU/L. Although SH in children seems to be a bening condition, ongoing scientific investigations have highlighted the presence of subtle proatherogenic abnormalities among children with modest elevations in their TSH levels. Data on cardiac performance in children with SH are still scanty.Aim: To compar...

Background: Thyroid hormone plays a key role in bone mineral homeostasis and significant alterations in its circulating levels has been associated with impairment in skeletal growth during childhood. To date, bone effects of subclinical hypothyroidism (SH) has not been demonstrated yet, therefore the management of this condition is still debated.Aim: To evaluate bone mineral density (BMD) in children with mild, persistent SH and the effects of two-years ...

Background: GnRH-analogs (GnRHa) are the recommended treatment for Central Precocious Puberty (CPP). Despite a normal long-term outcome is generally reported, reproductive function and emotional sphere in adulthood are still poorly evaluated.Objective: To evaluate the general long-term outcome of young women with previous CPP treated with GnRHa.Patients and methods: A cohort of 63 young women (25.5±5.31 years) with history of ...

Background: GH therapy during the transition period is important for somatic maturation. Identification of factors associated with low IGF-I levels may be useful in optimising GH replacement therapy.Objectives: To explore the prevalence and determinants of insufficient GH replacement during transitionMethods: Childhood-onset GH deficient (CO-GHD) patients (n=65) who stopped therapy, and were started on adult GH dose during t...

Background: P450 Oxidoreductase (POR) Deficiency(PORD) represents the most complex form of congenital adrenal hyperplasia. It usuallycauses genital ambiguity in both sexes, and eventually peculiar skeletal malformations resembling Antley-Bixler syndrome. Co-occurrence of POR deficiency and Argininosuccinatelyase Deficiency (ALD)in the samepatient born to non-consanguineous parents has never been reported.Case report: A male patient was born at term to no...

Context: Severe or ‘classical’ growth hormone insensitivity (GHI) is characterised by extreme short stature, dysmorphism and metabolic anomalies. It is caused by homozygous or compound heterozygous mutations of the Growth Hormone Receptor gene (GHR). Genetic analysis traditionally focuses on the exonic regions of gene(s). The non-coding regions of the genome may harbour numerous disease-causing mutations that are not well recognised or understood.<p clas...

Background: Primary Adrenal Insufficiency (PAI) is a rare life-threatening disorder. Data on etiology and outcome of PAI in childhood are scanty, with the exception of Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). The aim of our study is to evaluate etiology, morbidity and long-term outcome of PAI in a large cohort of children and characterize clinical presentation in subjects with PAI not due to 21OHD CAH.Material and me...