In this paper the aetiology and incidence of three common endocrine disorders of childhood, diabetes mellitus, congenital hypothyroidism, and congenital adrenal hyperplasia, are reviewed. The roles...
Pearce, S H, Trump, D, Wooding, C, Besser, G M, Chew, S L, Grant, D B, ...
Familial benign hypercalcemia (FBH) and neonatal hyperparathyroidism (NHPT) are disorders of calcium homeostasis that are associated with missense mutations of the calcium-sensing receptor (CaR). We...
Adenylate cyclase in Saccharomyces cerevisiae is a peripheral membrane protein.
Mitts, M R, Grant, D B, Heideman, W
The adenylate cyclase system of the yeast Saccharomyces cerevisiae contains the CYR1 polypeptide, responsible for catalyzing formation of cyclic AMP (cAMP) from ATP, and two RAS polypeptides, which...
Tillotson, S L, Grant, D B, Ades, A E
AIMS: To examine the relation between plasma total thyroxine and free thyroxine in children with congenital hypothyroidism. METHODS: Regression analysis was performed on 114 cases on the paired total...
Growth arrest despite growth hormone replacement, post-craniopharyngioma surgery.
DeVile, C J, Hayward, R D, Neville, B G, Grant, D B, Stanhope, R
Children with growth failure, whether secondary to an endocrinopathy such as growth hormone deficiency or secondary to neurological handicap with poor nutrient intake, grow at a subnormal rate but it...
Eckhardt, S, Dillon, M J, Grant, D B
Various pathophysiological explanations for Bartter's syndrome have been put forward since the condition was first described in 1962. It is currently thought that reduced reabsorption of sodium...
Growth, development, and reassessment of hypothyroid infants diagnosed by screening.
Hulse, J A, Grant, D B, Jackson, D, Clayton, B E
Thirty]six neonates in whom hypothyroidism was diagnosed after thyroid stimulating hormone screening were reassessed at 1 year. All had grown satisfactorily and the mental development scores were...
Population screening for congenital hypothyroidism.
Hulse, J A, Grant, D B, Clayton, B E, Lilly, P, Jackson, D, Spracklan, A, ...
A pilot screening programme for congenital hypothyroidism covering most of North London, Essex, Bedfordshire, and Hertfordshire entailed carrying out an assay of thyroid-stimulating hormone on single...
Plasma corticotrophin levels in addison-schilder's disease.
Rees, L H, Grant, D B, Wilson, J
Raised plasma immunoreactive corticotrophin (ACTH) levels were found in five boys with the sex-linked disorder progressive leucodystrophy associated with adrenal insufficiency (Addison-Schilder's...
Pearce, S H, Trump, D, Wooding, C, Besser, G M, Chew, S L, Grant, D B, ...
Familial benign hypercalcemia (FBH) and neonatal hyperparathyroidism (NHPT) are disorders of calcium homeostasis that are associated with missense mutations of the calcium-sensing receptor (CaR). We...
Adenylate cyclase in Saccharomyces cerevisiae is a peripheral membrane protein.
Mitts, M R, Grant, D B, Heideman, W
The adenylate cyclase system of the yeast Saccharomyces cerevisiae contains the CYR1 polypeptide, responsible for catalyzing formation of cyclic AMP (cAMP) from ATP, and two RAS polypeptides, which...
Tillotson, S L, Grant, D B, Ades, A E
AIMS: To examine the relation between plasma total thyroxine and free thyroxine in children with congenital hypothyroidism. METHODS: Regression analysis was performed on 114 cases on the paired total...
Growth arrest despite growth hormone replacement, post-craniopharyngioma surgery.
DeVile, C J, Hayward, R D, Neville, B G, Grant, D B, Stanhope, R
Children with growth failure, whether secondary to an endocrinopathy such as growth hormone deficiency or secondary to neurological handicap with poor nutrient intake, grow at a subnormal rate but it...
Eckhardt, S, Dillon, M J, Grant, D B
Various pathophysiological explanations for Bartter's syndrome have been put forward since the condition was first described in 1962. It is currently thought that reduced reabsorption of sodium...
Growth, development, and reassessment of hypothyroid infants diagnosed by screening.
Hulse, J A, Grant, D B, Jackson, D, Clayton, B E
Thirty]six neonates in whom hypothyroidism was diagnosed after thyroid stimulating hormone screening were reassessed at 1 year. All had grown satisfactorily and the mental development scores were...
Population screening for congenital hypothyroidism.
Hulse, J A, Grant, D B, Clayton, B E, Lilly, P, Jackson, D, Spracklan, A, ...
A pilot screening programme for congenital hypothyroidism covering most of North London, Essex, Bedfordshire, and Hertfordshire entailed carrying out an assay of thyroid-stimulating hormone on single...
Plasma corticotrophin levels in addison-schilder's disease.
Rees, L H, Grant, D B, Wilson, J
Raised plasma immunoreactive corticotrophin (ACTH) levels were found in five boys with the sex-linked disorder progressive leucodystrophy associated with adrenal insufficiency (Addison-Schilder's...
National screening for congenital hypothyroidism was established in the United Kingdom in 1982. During 1982-4, 488 infants with primary congenital hypothyroidism were detected by the 25 regional...
Familial thyroxine-binding globulin deficiency: search for linkage with Xg blood groups
Grant, D. B., Clarke, H. G. Minchin, Putman, D.
Serum thyroxine-binding globulin (TBG), thyroxine, and thyrotrophin were estimated in members of a family with TBG deficiency. Xga red cell antigen status was also studied. TBG deficiency appeared to...
A reappraisal of the CHARGE association.
Oley, C A, Baraitser, M, Grant, D B
We describe 14 boys and six girls, including monozygotic twins, with the CHARGE association. All of the children had at least four of the seven major features included in the mnemonic CHARGE and all...
Harding, B N, Dunger, D B, Grant, D B, Erdohazi, M
Clinical and pathological findings are reported in two siblings who presented in the neonatal period with failure to thrive, hypotonia, pericardial effusions, limitation of joint movement, retinal...
Recessively inherited growth hormone deficiency in a family from Iraq.
Donaldson, M D, Tucker, S M, Grant, D B
A family from Iraq with five growth hormone deficient children in two closely related sibships is reported. The clinical forms and modes of inheritance of familial growth hormone deficiency are...
Winter, R M, Baraitser, M, Grant, D B, Preece, M A, Hall, C M
Five patients from four families, including two male sibs, are reported with clinical and radiological features of the 3-M syndrome.
Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia.
Rumsby, G, Carroll, M C, Porter, R R, Grant, D B, Hjelm, M
DNA was analysed from 20 patients with congenital adrenal hyperplasia due to cytochrome P-450 steroid 21-hydroxylase deficiency. Using probes recognising sequences in both the 21-hydroxylase gene and...
Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome.
Grant, D B, Barnes, N D, Dumic, M, Ginalska-Malinowska, M, Milla, P J, Von Petrykowski, W, ...
Review of 20 patients with glucocorticoid deficiency (three cases also with salt loss) associated with absent tear secretion (19 cases) and achalasia of the cardia (15 cases) revealed neurological...
Grant, D B, Fuggle, P W, Smith, I
Plasma thyroid stimulating hormone (TSH) concentrations obtained during the first four years of treatment in 418 children with congenital hypothyroidism, identified by neonatal screening, were...
Masera, N, Grant, D B, Stanhope, R, Preece, M A
The clinical and endocrinological findings in 24 children with septo-optic dysplasia and/or agenesis of the corpus callosum are described with particular reference to posterior pituitary function....
Growth in early treated congenital hypothyroidism.
The growth of 361 children with congenital hypothyroidism diagnosed by screening was assessed by estimating mean values for height, weight, body mass index (BMI), and head circumference on each...
Intellectual development at 10 years in early treated congenital hypothyroidism.
Simons, W F, Fuggle, P W, Grant, D B, Smith, I
Fifty nine children born between 1978 and 1981 with congenital hypothyroidism detected by neonatal screening were assessed at 10 years using the Wechsler intelligence scale for children, together...
Sodium-lithium countertransport in children with diabetes and their families.
Houtman, P N, Campbell, F M, Shah, V, Grant, D B, Dunger, D B, Dillon, M J
Abnormalities of sodium-lithium countertransport have been extensively implicated in adult primary hypertension and a relationship between sodium-lithium countertransport and family history of...
Mild impairment of neuro-otological function in early treated congenital hypothyroidism.
Bellman, S C, Davies, A, Fuggle, P W, Grant, D B, Smith, I
Pure tone audiometry, tympanometry, acoustic stapedial reflex thresholds (ASRTs), and auditory evoked brain stem responses (AEBRs) were carried out in 38 children with early treated congenital...
Growth and endocrine sequelae of craniopharyngioma.
DeVile, C J, Grant, D B, Hayward, R D, Stanhope, R
The growth and endocrine sequelae of 75 children (33 girls and 42 boys) with craniopharyngioma, treated from 1973 to 1994, were studied by retrospective review and by follow up assessment in 66...
Micropenis associated with testicular agenesis.
This paper describes 2 male infants who were born with sever micropenis and in whom testicular tissue could not be identified at surgery. HCG stimulation in one infant was not followed by a rise in...
Thyrotrophin estimation in diagnosis and treatment of childhood thyroid disorders.
Jackson, D, Vanderschueren-Lodeweyckx, M, Grant, D B
Serum thyrotrophin (TSH) was estimated by double-antibody radioimmunoassay in 200 children aged 2 months to 16 years with normal thyroid function. There was no apparent variation in TSH with age or...
Hypoglycaemia in congenital adrenal hyperplasia.
Two young children with salt-losing congenital adrenal hyperplasia developed profound hypoglycaemia. In one child hypoglycaemia occurred after a prolonged fast and in the other it was precipitated by...
Neurological abnormalities in patients treated for hypothyroidism from early life.
Macfaul, R, Dorner, S, Brett, E M, Grant, D B
Neurological and psycholocial assessment was carried out on 30 patients aged 2.7 to 21 years (mean 9.4) who were being treated for hypothyroidism starting before the age of 2 years. Their IQ scores...
Cushing's disease presenting with growth failure: clinical remission during cyproheptadine therapy.
A 14.7 year-old boy had almost complete suppression of growth as a result of mild pituitary-dependent Cushing's disease. There was complete clinical remission during treatment with cyproheptadine (12...
Premature menarche without other evidence of precocious puberty.
Heller, M E, Dewhurst, J, Grant, D B
We describe 4 young girls with recurrent vaginal bleeding in the absence of other signs of precocious sexual development. Investigation showed low oestrogen levels in 2 of them, and basal...
24-Hour urinary glucose excretion in assessment of control in juvenile diabetes mellitus.
Levinsky, R J, Trompeter, R S, Grant, D B
24-Hour urinary glucose excretion was measured in 43 juvenile diabetics during treatment as outpatients. In 20 children studied twice over 1-3 months there was good correlation between glucose...
HCG stimulation test in children with abnormal sexual development.
Grant, D B, Laurance, B M, Atherden, S M, Ryness, J
Plasma testosterone was estimated by radioimmunoassay in 60 children with disorders of sexual development before and after stimulation with human chorionic gonadotrophin (HCG). In 21 children the...
Plasma androgens after a single oral dose of testosterone undecanoate.
Geere, G, Jones, J, Atherden, S M, Grant, D B
Total plasma androgens (PA) were measured in 9 hypogonadal males aged between 13 and 21 1/2 years after a single oral dose of testosterone undecanoate (TU). With the exception of one patient, all...
HLA typing as a method of genetic counselling in congenital adrenal hyperplasia
Savage, M O, Field, H, Wolf, E, Pembrey, M E, Grant, D B
A Turkish Cypriot family with 3 consanguineous marriages is described. Segregation of the 21-hydroxylase deficiency gene was traced by HLA genotyping and this information used for genetic counselling.
Endocrine function, morbidity, and mortality after surgery for craniopharyngioma.
The records of 59 children with craniopharyngioma first treated between 1960 and 1980 were reviewed. There was a high incidence of postoperative growth hormone deficiency (43 of 43),...
Premature menarche: a follow-up study
Murram, D, Dewhurst, John, Grant, D B
Follow-up information was obtained from 12 women aged 16-34 years who had been seen previously because of premature isolated menstrual bleeding (premature menarche) starting between ages 9 months and...
Leiper, A D, Grant, D B, Chessells, J M
Testicular function was investigated by the luteinising hormone releasing hormone (LHRH) test and a three day human chorionic gonadotrophin (HCG) test in 11 prepubertal boys with acute lymphoblastic...
Precocious puberty: a follow up study.
Murram, D, Dewhurst, J, Grant, D B
Follow up of women previously seen between 1951 and 1971 with precocious puberty showed that most had normal menstrual cycles and that fertility was generally normal in those with 'constitutional'...
Comparison of Serum Growth Hormone Levels after Bovril and Insulin Stimulation
Grant, D. B., Jackson, Doreen, Raiti, S., Clayton, Barbara E.
Serum growth hormone (HGH) levels were estimated in 60 children during Bovril and intravenous insulin tests. The results of the two tests correlated well. 37 subjects had HGH levels over 10 μIU/ml....
Circadian variation in plasma 17-hydroxyprogesterone in patients with congenital adrenal hyperplasia
Circadian Variation in Plasma 17-Hydroxyprogesterone in Patients with Congenital Adrenal Hyperplasia
Atherden, Shelia M., Barnes, N. D., Grant, D. B.
Plasma 17-hydroxyprogesterone (17-OHP) levels in 4 patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency were greatly raised and showed a marked circadian variation,...
Cushing's Syndrome in Childhood: Postoperative Management
Raiti, S., Grant, D. B., Williams, D. Innes, Newns, G. H.
Of 8 children with Cushing's syndrome, 7 had tumours and 1 bilateral adrenal hyperplasia. All had hypertension; 5 cases also showed virilization; only 3 had short stature. All excreted raised urinary...
Atherden, Shelia M., Edmunds, A. T., Grant, D. B.
Plasma 17-hydroxyprogesterone (17-OHP) was estimated in 9 infants aged 6 to 12 days with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Raised plasma 17-OHP values, ranging...
Transient sexual precocity and ovarian cysts.
Lyon, A J, De Bruyn, R, Grant, D B
Nine girls presenting under the age of 7 years with unsustained sexual precocity are described. Large ovarian cysts were detected by ultrasound in three and laparotomy in one. In two girls the...
Growth curve for girls with Turner syndrome.
Lyon, A J, Preece, M A, Grant, D B
A growth chart for girls with Turner syndrome has been prepared using data from four published series of European patients, and evaluated using retrospective data on the heights of girls with Turner...
Clinical presentation, growth, and pubertal development in Addison's disease.
Grant, D B, Barnes, N D, Moncrieff, M W, Savage, M O
The clinical course of eight boys and six girls with Addison's disease has been reviewed. Adrenal antibodies were found in five boys and five girls, and four children showed clinical evidence of...
Gonadal function after testicular radiation for acute lymphoblastic leukaemia.
Leiper, A D, Grant, D B, Chessells, J M
Pubertal maturation, growth, and gonadal function were assessed in 13 boys with acute lymphoblastic leukaemia who had received direct testicular irradiation three to nine years earlier as treatment...
Diabetes insipidus and occult intracranial tumours.
Sherwood, M C, Stanhope, R, Preece, M A, Grant, D B
We describe four patients with intracranial tumours who presented with diabetes insipidus and subsequently developed an evolving anterior pituitary endocrinopathy. The delay in imaging the tumours...
5 alpha-reductase deficiency without hypospadias.
Ng, W K, Taylor, N F, Hughes, I A, Taylor, J, Ransley, P G, Grant, D B
A boy aged 4 with penoscrotal hypospadias and his brother aged 12 with micropenis had typical changes of homozygous 5 alpha-reductase deficiency. After three injections of chorionic gonadotrophin...
Absence of Y specific DNA sequences in two siblings with 46XX hermaphroditism.
Raine, J, Robertson, M E, Malcolm, S, Hoey, H, Grant, D B
We report two siblings with 46XX hermaphroditism in whom we were unable to show the presence of Y specific DNA sequences using the DNA probes Y-190, GMGY-7, pHY2.1, pDP34, and 27a. We conclude that...
Moorthy, B, Papadopolou, M, Shaw, D G, Grant, D B
Eleven teenage boys with bilateral anorchia and 12 with gonadotrophin deficiency were treated by injections of testosterone ester (enanthate) at an initial dose of 100 mg every six to eight weeks,...
Nesidioblastosis: evidence for autosomal recessive inheritance.
Woolf, D A, Leonard, J V, Trembath, R C, Pembrey, M E, Grant, D B
The risk of recurrence of nesidioblastosis is unclear. Thirty patients from 28 families were studied; the marriages were consanguineous in five families. The ratio of subsequent affected to...
Gibb, D M, Foot, A B, May, B, Parish, H, Strang, S, Grant, D B, ...
Fifty two children with insulin dependent diabetes mellitus were randomised to receive human isophane or lente insulin preparations in combination with soluble insulin in a double blind trial....
Growth prognosis and growth after menarche in primary hypothyroidism.
Pantsiouou, S, Stanhope, R, Uruena, M, Preece, M A, Grant, D B
The long term growth of 20 girls and nine boys with juvenile primary hypothyroidism was studied until they reached final height. At diagnosis the girls had a mean age of 8.8 years (range 3.0-13.0);...
Growth patterns after surgery for virilising adrenocortical adenoma.
Salt, A T, Savage, M O, Grant, D B
Analysis of growth in nine girls after successful surgical removal of a virilising adrenocortical adenoma showed that five girls continued to grow rapidly for up to 18 months after operation and...
Surgical treatment of hyperinsulinaemic hypoglycaemia in infancy and childhood.
Spitz, L, Bhargava, R K, Grant, D B, Leonard, J V
Despite a greater awareness of hyperinsulinaemic hypoglycaemia, one in three patients has some degree of mental retardation by the time the diagnosis is made. The diagnosis is established by...
Grant, D B, Smith, I, Fuggle, P W, Tokar, S, Chapple, J
The relationships between biochemical severity of hypothyroidism (as judged by plasma thyroxine) and the clinical and radiographic findings at diagnosis were evaluated in 449 infants born in 1982-4...
Tillotson, S. L., Fuggle, P. W., Smith, I., Ades, A. E., Grant, D. B.
OBJECTIVES--To assess whether early treatment of congenital hypothyroidism fully prevents intellectual impairment. DESIGN--A national register of children with congenital hypothyroidism who were...
National screening for congenital hypothyroidism was established in the United Kingdom in 1982. During 1982-4, 488 infants with primary congenital hypothyroidism were detected by the 25 regional...