Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life.

Objective: Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition.

Methods: Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birth questionnaire.

Effect of oxandrolone and timing of oral ethinylestradiol initiation on pubertal progression, height velocity and bone maturation in the UK Turner study.

Background: A UK study showed final height in Turner syndrome (TS) girls receiving growth hormone is affected by age at pubertal induction and oxandrolone (Ox). Using data from that study, we analysed the effect of timing of oral ethinylestradiol (EE2) and Ox on height velocity (HV), bone maturation and pubertal progression, and compared growth response in EE2-treated versus spontaneous puberty.

Methods: Analysis of HV, bone age and pubertal stage in 92 TS girls (7-13 years) randomised to Ox (0.

Effect of oxandrolone and timing of pubertal induction on final height in Turner's syndrome: randomised, double blind, placebo controlled trial.

Objective: To examine the effect of oxandrolone and the timing of pubertal induction on final height in girls with Turner's syndrome receiving a standard dose of growth hormone.

Design: Randomised, double blind, placebo controlled trial. Setting 36 paediatric endocrinology departments in UK hospitals.

Ethinyl estradiol treatment for growth limitation in girls with Marfan's syndrome--experience from a single center.

Objectives: Tall stature, a major characteristic of Marfan's syndrome, may be of concern to the family, particularly if the patient is a girl. Experience with treatment options-sex steroid or somatostatin analogue-for height reduction in girls is limited. We have evaluated our experience of estrogen treatment in girls with Marfan's syndrome attending the pediatric endocrine clinic in Glasgow between 1989 and 2005.

Hashimoto's thyroiditis in Down's syndrome: clinical presentation and evolution.

Aim: It was the aim of this study to describe the presentation and clinical course of Hashimoto's thyroiditis (HT) in children with Down's syndrome (DS) in 2 Scottish health regions.

Patients And Methods: We retrospectively analysed clinical, biochemical and thyroid antibody status in 38 patients with DS with HT diagnosed from 1989 to 2004.

Results: The sex distribution was similar (20 males, 18 females), with a median age of 12.

A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.

A male presented at age 2.2 years with a 6-week history of intermittent vomiting and hyperpigmentation. Investigations showed salt wasting with hyperkalaemia, a grossly impaired cortisol response to ACTH stimulation, elevated renin and ACTH.

Deterioration of visual acuity associated with growth hormone therapy in a child with extreme short stature and high hypermetropia.

Background: Growth hormone (GH) has long been implicated in the pathogenesis of diabetic retinopathy, although its precise role remains ill-defined. In 1998, an association between exogenous human GH and retinal pathology in non-diabetic subjects was described.

Case Report: A female child with extreme short stature of unknown aetiology (height -7.

Maternal age in patients with septo-optic dysplasia.

Aim: To determine whether patients with septooptic dysplasia (SOD) are of normal birth weight and gestation but are born to mothers who are significantly younger than average.

Methods: Retrospective study of 30 patients with SOD attending the Royal Hospital for Sick Children, Glasgow. Birth data for the Scottish population were used for comparison.

Final height outcome and value of height prediction in boys with constitutional delay in growth and adolescence treated with intramuscular testosterone 125 mg per month for 3 months.

Objectives: Constitutional delay in growth and adolescence (CDGA) is common in boys, some of whom request treatment to accelerate growth and attainment of secondary sexual characteristics. The aims of this study were to confirm that a 3-month course of intramuscular testosterone oenanthate does not impair final height in boys with CDGA, and to determine the accuracy of height prediction in this condition.

Design And Patients: Boys with CDGA who had attended the growth clinic, who were now at or close to final height and who had received either testosterone or declined treatment, were identified by retrospective case note analysis.

Poor uterine development in Turner syndrome with oral oestrogen therapy.

Objective: To evaluate uterine development in Turner syndrome (TS) patients in relation to treatment with oral ethinyl oestradiol (E2 ) for pubertal induction.

Design And Patients: Pelvic ultrasound data for 96 TS patients scanned since 1989 were analysed. Patients were classified into three groups: (1) untreated (n = 48); (2) complete spontaneous puberty (n = 10); and (3) treated with ethinyl oestradiol (n = 38).