Endocrine Abstracts

We report a case of a girl with severe short stature (-3.5 SD) from the age of 2 years. She was born at term with a normal birth weight (-1.3 SD) to non-consanguineous Pakistani/British parents. She had global developmental delay, hypotonia and microcephaly (-2.0 SD). She also had juvenile xanthogranuloma, alternating esotropia, constipation and initial feeding difficulties. Her current height is -2.9 SD with a normal BMI, aged 11. Serum IGF1 at age 2 years was <25 (49-289...

There is data suggesting that puberty is starting earlier than in previous generations. However, there is minimal information on menarche and its management in UK primary schools. We present a population study, performed in Islington: a London borough with wide ethnic diversity, conducted using written questionnaires to all primary schools. Data collected included: information on menarche, provision and disposal of sanitary towels and teaching on puberty. 22 (50%) replies were...

Introduction: Bartter Syndrome types 3 and 4 (BS3/4) are rare tubulopathies, caused by CLCNKB and BSND mutations, which affect chloride channel function in the loop of Henle and distal convolute. Historically, with late presentation and poor disease control, patients had severe short stature. Multiple case reports have also found associations between BS3/4 and Growth Hormone deficiency (GHD). Our aim was to investigate growth and presence of GHD in a large co...

Background: Recombinant human Insulin-like growth factor-1 (rhIGF-1) is the only treatment for short stature due to primary IGF-1 deficiency and related disorders. However, treatment needs meticulous monitoring for adverse effects, especially hypoglycemia, obstructive sleep apnoea (OSA), raised intracranial hypertension, cardiac complications and skin reactions.Method: To determine therapeutic potential, efficacy and safety of rhIGF-1 treatment, case not...

Introduction: The adipokine adiponectin promotes insulin sensitivity and its circulating levels are inversely related to adiposity in adults and older children. In small for gestational age (SGA) infants adiponectin levels decline rapidly with age in early life and have been inversely associated with subsequent weight gain. There are few data in early infancy, especially in non-SGA infants.We therefore investigated the association between adiponectin lev...

Background & Objective: Pseudohypoparathyroidism (PHP), a heterogeneous condition, classically causes parathyroid hormone (PTH) resistance. PHP1a is caused by heterozygous inactivating mutations on the maternally derived GNAS allele. PHP1b results from methylation defects at the GNAS imprinted gene cluster, which are either sporadic, or familial, normally associated with maternally inherited intragenic STX16 deletions. We investigated the presentation, phenotype, ...