Biomedical subjects

Malcolm D C Donaldson

Publications and source records attributed to Malcolm D C Donaldson.

5 recordsLinked to original sources

PubMed2006

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 -7.38 SD at 11.3 years) and severe hypermetropia developed retinopathy with visual deterioration during two separate empiric trials of GH therapy. On the first occasion, a relatively high dose of GH (10.5 mg/m2/week) administered from age 4.4 to age 4.7 years was associated with the development of central serous retinopathy, resulting in marked reduction in visual acuity. On cessation of GH, the macular oedema resolved, and visual acuity improved. At age 5.6 years, GH therapy was re-introduced at a lower dose (3.9 mg/m2/week) and her vision monitored closely. Bilateral retinal oedema recurred after 3 months, and GH therapy was stopped. Once again, the macular oedema regressed, and visual acuity improved following withdrawal of GH. These ophthalmic changes contra-indicated further GH therapy. CONCLUSION: We suggest that GH may be a risk factor in the development of retinopathy in certain non-diabetic patients, especially in the presence of a severe refractive error.

Child↗

PubMed2005

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy presenting with severe keratopathy in an Egyptian patient with a homozygous R139X mutation.

OBJECTIVE: To report a patient with an unusual presentation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and severe keratopathy. CASE HISTORY: An Egyptian male sustained an injury to the left eye at 13 years of age and was found to have corneal damage which was attributed to the injury. Subsequently, however, he continued to have sore eyes with photophobia. A year later he became weak with pigmentation and episodes of collapse, and investigation showed that he had Addison's disease together with mucocutaneous candidiasis. At 15 years of age he developed carpo-pedal spasm and was found to have hypoparathyroidism with intracranial calcification. At 20 years of age the ophthalmic diagnosis was revised to keratopathy by which time the patient had corneal opacity and problems with visual acuity, especially in the right eye. Investigation at 22 years of age showed that he was homozygous for an R139X mutation in the gene encoding the AIRE protein, a mutation which to date has only been found in Sardinian patients. CONCLUSIONS: Keratopathy can be an early and severe manifestation of APECED, requiring expert ophthalmic care. Its presence should prompt a search for other components of APECED, some of which are life-threatening.

Adult↗

PubMed2005

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. RESULTS: Mean birth weight was 3.42 (range 2.66-4.18) kg. One patient was born preterm while the rest were born at term. Data for the Scottish population were available from 1979 onwards and 26 patients born after this year were selected for analysis. Median maternal age in this group was 21 (range 16-41) years, significantly lower than the median maternal age for Scotland of 27.12 (range 25.8-28.6) years (95% CI 4.8-8.0 years). CONCLUSION: Patients with SOD are of normal birth weight and gestation but are born to mothers who are significantly younger than average.

Adolescent↗

PubMed2003

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. Bone age assessment was carried out by a single observer, using the RUS (TW2) method of Tanner and Whitehouse. MEASUREMENTS: The following auxological data were extracted from the case records: age, bone age, height, pubertal stage, parental heights and predicted final height. All subjects were then measured at age 19 years or greater. The main outcome measures were comparison of final height in treated and untreated boys; final height comparison with mid-parental height and with height prediction [RUS (TW2) method] at initial assessment and at subsequent review. RESULTS: Sixty-four boys met the inclusion criteria, of whom 41 subjects had received testosterone and 23 were untreated. There were no significant differences between the groups (treated mean/SD vs. untreated mean/SD; P-value) in age (14.3/0.7 vs. 14.0/1.1; 0.13), height (144.7/6.2 vs. 144.2/6.2; 0.79), mid-parental heights (170.4/5.5 vs. 171.1/4.5; 0.59), and bone age (12.0/1.2 vs. 12.3/1.3; 0.36). Final heights in both groups (168.9/6.0 vs. 168.2/3.5; 0.65) were closely related to predicted final heights (170.0/5.0 vs. 168.1/4.1; 0.15) and only slightly less than mid-parental heights. Only three subjects had final heights below the initial height prediction range. CONCLUSIONS: Our data support the hypothesis that this treatment regime does not adversely affect the final height achieved in constitutional delay of growth and adolescence and that height prediction, assessed by a single observer, is a useful and accurate tool.

Adolescent↗

PubMed2002

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). Uterine development was described in the three groups and compared with the normal data. MEASUREMENTS: Uterine length, fundal-cervical ratio (FCR) and shape were recorded, and presence or absence of ovaries noted. In the treated group, cross-sectional and longitudinal data were combined to compare uterine development with Tanner breast stage. RESULTS: In untreated girls up to age 10 years there was a variable distribution of uterine length and FCR about the mean. Thereafter, the uterus failed to grow and mature normally. Girls with complete spontaneous puberty had morphologically normal ovaries and uteri, but of 7 girls who attained menarche, 3 subsequently developed secondary oligomenorrhoea or amenorrhoea. In the treated group, in general, breast development and uterine length progressed with increasing E2 dose. However, only 50% of girls with complete secondary sexual development had a mature heart-shaped uterine configuration. CONCLUSIONS: Our current E2 treatment regimen for TS girls gives rise to satisfactory pubertal induction and maintenance, but failed to induce a fully mature uterus in half the cohort. In view of the high risk of miscarriage in TS in both spontaneous and assisted pregnancies, the effect of more physiological methods of E2 replacement on uterine development should be investigated.

Adolescent↗