Endocrine Abstracts

Introduction: We describe a girl presenting with abnormal facial features, growth restriction with insufficient growth hormone production and learning difficulties. She has an unbalanced translocation between 17p13.3 and 10q26.13 causing a microdeletion at 17p13.3 and trisomy of 10q26.Case report: At presentation at 7½ years of age, her height was 4 cm below the 0.4th centile with a growth velocity of 1.6 cm/year; weight was on 0.4th centile. Invest...

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: 11β-Hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia (CAH) occurring in 1 in 100 000 births. The mainstay of management is with glucocorticoids to prevent virilisation and optimise growth. In this case, a novel approach was applied to improve linear growth in a patient who presented late with an advanced bone age.Case report: The patient was born in Turkey to consanguineous parents. Aged 3 years, ...

Background: Hyperosmolar hyperglycaemic state (HHS) is a life-threatening condition that can be the initial presentation of type 2 diabetes mellitus. This condition is characterized by severe hyperglycaemia, a high serum osmolality and dehydration without accumulation of ketoacids. We report two patients who presented with mixed features of HHS and DKA.Case 1: An 11-year-old Afro-Caribbean boy with severe developmental delay presented with a 4-week histo...

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, ...