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Biomedical subjects

A Cicognani

Publications and source records attributed to A Cicognani.

At least 37 records · Page 2Linked to original sources

Abnormal insulin response to glucose following treatment for Wilms' tumor in childhood.

UNLABELLED: To determine whether beta-cell function could be impaired by the treatment for Wilms' tumour (WT) in childhood. We investigated the insulin secretion of 44 survivors of WT (22 males) with a median off-treatment follow up of 8.3 years (range 1-19.8). All patients had an intravenous glucose tolerance test (IVGTT) (0.5 gm/kg, max 25 g) to determine the first-phase insulin response (FPIR) (sum of the 1- and 3-min insulin concentrations). Median age at the time of the study was 12.7 years (range 4.2-22.7). Eight subjects (7 males) had a FPIR value below the 3rd percentile, and 7 (3 males) above the 97th centile. Among the 22 patients who received radiotherapy. 7 (6 males) showed a FPIR < 3rd percentile versus only 1 (a male) of the 22 patients who received no radiation (31.8% vs 4.5%; P < 0.05). Analysis of variance showed that the time elapsed since therapy had a significant role on the development of low FPIR only in males. The 7 patients with an insulin release > 97th percentile did not show any significant difference compared to subjects with lower insulin values for weight, age at diagnosis, sex, time elapsed since treatment, radiotherapy and chemotherapy protocol. CONCLUSION: An impaired insulin response is evident in some patients treated for WT in childhood, mainly in male patients who received abdominal radiotherapy and were examined a longer time after therapy. We hypothesize that this decreased insulin release is related to damage due to radiotherapy and therefore a careful follow up is recommended in adulthood in these patients.

Age Factors↗

Determinants of functional status in healthy Italian nonagenarians and centenarians: a comprehensive functional assessment by the instruments of geriatric practice.

OBJECTIVE: To evaluate the physical ability and psychocognitive status of a population more than 90 years of age with regard to sociodemographic, behavioral, and biomedical variables known to affect functional status in old age. DESIGN: A survey design was used. SETTING: Emilia Romagna, Northern Italy. PARTICIPANTS: Eighty-four healthy community-dwelling subjects aged 90 to 106 years. MEASUREMENTS: Sociodemographic variables, health behavior, anthropometric indices, and serum DHEAS levels were recorded. Functional assessment was performed by instruments currently used in geriatric practice: the Mini-Mental State Examination (MMSE), Geriatric Depression Scale (GDS), and Activities of Daily Living (ADL) scale. A stepwise multiple regression analysis was performed. RESULTS: GDS scores correlated directly with MMSE scores and inversely with ADL severity scores. Poor education, institutionalization, sensory impairment, muscular mass loss, and lower DHEAS levels were the variables with the highest correlation to functional impairment. Smoking, alcohol consumption, and marital status were relatively unimportant. An inverse association was found between DHEAS levels and dependency scores of single ADLs (continence, mobility). CONCLUSION: Impaired cognitive and physical ability with no increase in depression prevalence was found in a sample of subjects more than 90 years of age free of major age-related disease. Muscular mass and DHEAS levels seem to play a role in maintaining physical independence. In turn, physical independence, as well as social and cultural factors, strongly affect the compliance of long-lived subjects with psychocognitive tests currently used in the clinical evaluation of younger old people, suggesting that these instruments are not reliable for screening for cognitive impairment and depression in the oldest old subjects.

Activities of Daily Living↗

Final height of patients treated for isolated GH deficiency: examination of 83 patients.

The aim of the present study was to evaluate retrospectively the influence of various auxological and laboratory parameters on final height in a group of GH-deficient children after replacement therapy and to compare their final height with that of a group of short children with normal GH secretion and hence not treated. The final height was evaluated of 83 patients (51 males and 32 females) affected by idiopathic isolated GH deficiency and treated with recombinant human GH (hGH) for 2-7 years. Inclusion criteria at the start of treatment were short stature (mean height for chronological age in standard deviation score (SDS) -2.21) due to idiopathic isolated GH deficiency (GH peak < 8 micrograms/l after two pharmacological tests and/or mean GH concentration < 3.3 micrograms/l during the night) and treatment with recombinant hGH for at least 2 years at a dose of 15-20 U/m2 per week by s.c. injection for 6 or 7 days/ week. Mean chronological age at diagnosis was 12.2 +/- 1.7 years; 35 were prepubertal and 48 pubertal. The final height of 51 untreated short stature (mean height for chronological age in SDS -2.13 at diagnosis) subjects (42 males and 9 females: 29 prepubertal and 22 pubertal at diagnosis with mean chronological age 11.6 +/- 2.4 years) with normal GH secretion was also evaluated. In the treated subjects final height SDS was higher than that of the untreated group (-1.3 vs -1.7 SDS; P = 0.01). Both treated and untreated subjects showed a final height lower than target height, but 39% of the treated subjects vs only 20% of the untreated group (P = 0.035) had a final height greater than target height. In the treated subjects this percentage was higher in the patients improving their height for bone age in the first years of therapy. While treated females showed a positive correlation only between target and final height (P = 0.0001), in treated males final height correlated with the Bayley-Pinneau prediction at diagnosis, height for chronological age and bone age at diagnosis and target height. Patients who started therapy before puberty also showed these correlations with data calculated at the onset of puberty, together with a correlation with chronological age at the onset of puberty. When considering the influence of GH response at tests on final height, the percentage of subjects exceeding target height increased progressively according to the severity of the GH deficiency. There was no difference in height gain between the patients starting therapy before or during puberty. The height gain, however modest, obtained by our treated patients, the number of patients with final height greater than target height and the favourable comparison with the untreated short-stature subjects represent a promising result, which could be improved by personalizing treatment.

Adolescent↗

Wolfe's mammographic patterns in women with gross cystic disease of the breast.

The epidemiologic determinants of the mammographic pattern were studied in 710 patients with aspirated gross (> 1 ml) cysts of the breast. The prevalence of the mammograms classified as P2-DY, that are considered to be associated with an increased breast cancer risk, was 636/710 or 89.6%. No relationship between mammographic patterns and characteristics of breast cyst fluid such as K+/Na+ ratio, apocrine changes and dehydroepiandrosterone sulfate concentration was observed. A significant decrease in the proportion of these patterns with increasing age (p = 0.006), Quetelet Index (p < 0.001), parity (p = 0.001), and in postmenopausal women (p = 0.026) was found. Conversely, P2-DY patterns were significantly associated with a later age at menarche (p = 0.023) and alcohol consumption (p = 0.001). In multivariate analysis, an independent association with age was not observed whereas the associations with age at menarche, parity, and relative weight were confirmed. In conclusion, the epidemiologic determinants of mammographic patterns are the same in Gross Cystic Disease patients as in unaffected women, and the lack of correlation between mammographic pattern and cyst type suggests that the latter may represent an independent predictor of breast cancer risk.

Adult↗

Response to growth hormone therapy in patients with growth hormone deficiency who at birth were small or appropriate in size for gestational age.

OBJECTIVE: To determine long-term growth response to growth hormone (GH) therapy in patients with isolated GH deficiency who had been small for gestational age and in those who had been appropriate in size for gestational age. DESIGN: Longitudinal, case-control study. SETTING: Pediatric clinic, endocrinology center, University of Bologna, Italy. PATIENTS: Sixteen GH-deficient children, small for gestational age with unknown cause, and 16 GH-deficient children, appropriate in size for gestational age, who were matched for chronologic age, bone age, pubertal stage, and target height at the beginning of treatment and were treated for 36 months. INTERVENTION: Recombinant human GH given subcutaneously at a dose of 20 IU/m2 per week in six doses per week for 36 months. MEASUREMENTS: Growth hormone levels (fluoroimmunoenzymatic method), levels of insulin-like growth factor I (radioimmunoassay), and complete 36-months auxologic follow-up. RESULTS: Patients who were small for gestational age had a modest improvement in height for chronologic age but no increase in predicted final height. Patients who were appropriate in size for gestational age had significantly better improvement in both measurements (multivariate analysis of variance: F = 6.3 (p < 0.001) and F = 3.8 (p < 0.05), respectively). Catch-up growth was similar during the first year of therapy for the two groups, after which the linear growth velocity decreased more rapidly in the small-for-gestational-age patients (multivariate analysis of variance: F = 4.9 (p < 0.05)). CONCLUSIONS: The constitutional component of the statural deficiency of small-for-gestational-age children seemed to prevail over hormonal deficiency during treatment with GH. Further follow-up to final height is necessary to evaluate these different responses.

Case-Control Studies↗

Follow-up of antibodies to growth hormone in 210 growth hormone-deficient children treated with different commercial preparations.

The aim of the study was to evaluate the immunogenicity of different commercial recombinant-growth hormone preparations. The presence of antibodies to growth hormone was tested in 210 growth hormone-deficient children at 6-month intervals during treatment for 6-66 months. The patients were treated with three preparations (groups A, B and C of 70 cases each) having the authentic growth hormone sequence. Groups A and B received hormone synthesized by the recombinant DNA technique in E. coli, while the group C preparation was produced in a mammalian cell line. The preparations showed poor immunogenicity and antibodies were found as follows: 1.4% in patients of group A (1 case: binding capacity 0.2 mg/l and Ka 3.5 10(7) l M-1), 2.8% in patients of group B (2 cases; case 1 binding capacity 0.7 mg/l and Ka 1.5 10(7) l M-1; case 2 binding capacity 0.04 mg/l and Ka of 1.8 10(8) and 6.5 10(6) l M-1), and 8.5% in group C (6 cases; binding capacity from 0.4 to less than 0.02 mg/l, Ka from 1.6 10(7) to 3.8 10(8) l M-1). Only two patients of group C presented the antibodies in two subsequent examinations; in the other patients the positivity was found once. In all patients positive samples were found at intervals of 6-24 months after the start of therapy. In all antibody-positive patients growth velocity presented no decrease at the time of antibody detection and was never different to that of negative patients. We conclude that the three commercial preparations examined showed poor immunogenicity without clinical relevance.

Adolescent↗

A feasibility study of ovarian cancer screening: does fine-needle aspiration improve ultrasound specificity?

AIMS AND BACKGROUND: The prognosis for ovarian cancer patients depends on the stage at diagnosis. As a prerequisite for any proposed procedure for ovarian cancer screening, high levels of specificity should be obtained using combinations of tests. Based on preliminary data from an ongoing feasibility study, this report is focused on the possible gain in specificity provided by fine-needle aspiration of occult ovarian masses detected by ultrasound. METHODS: Ultrasonography was used as a basic test, and fine-needle aspiration was obtained from selected patients. Those with (a) positive aspiration cytology or histology, (b) complex or solid masses showing volume increase, (c) complex or irregular masses and inadequate samples, and (d) recurrent cystic lesions were operated on. RESULTS: A total of 3541 asymptomatic patients 50-69 years of age underwent ultrasonography, and 98 were selected for fine-needle aspiration. Of these, 19 (positivity rate 19/3541 or 0.5%) were operated on. Two ovarian cancer cases (FIGO Stage II and III) were detected (detection rate 2/3541 or 0.6 x 1,000; positive predictive value 2/19 or 10.5%). Specificity was 3443/3539 or 97.3% for ultrasound alone and 3522/3539 or 99.5% for the procedure as a whole. Surgical exploration for relapses of benign cysts reduced by some 50% the potential gain in positive predictive value provided by aspiration cytology compared with ultrasound alone. CONCLUSIONS: Although fine-needle aspiration has improved the performance of ultrasound, this 2-level procedure does not appear to achieve acceptable levels of specificity.

Aged↗

Long-term follow-up and final height in girls with central precocious puberty treated with luteinizing hormone-releasing hormone analogue nasal spray.

OBJECTIVE: To evaluate clinical, hormonal, and auxologic features in a group of girls with central precocious puberty during and after long-term treatment with luteinizing hormone-releasing hormone analogue nasal spray. DESIGN: Clinical survey, before-after trial. SETTING: Pediatric Clinic, Endocrinological Center, University of Bologna (Italy). PATIENTS: Forty-one girls with central precocious puberty were treated for 28 months (range, 12 to 60 months); 25 of them discontinued therapy at a mean chronological age of 10.0 +/- 0.9 years and were followed up for 25 months (range, 6 to 50 months). Twelve patients achieved adult height. INTERVENTION: Buserelin acetate (D-Ser [TBU] LHRH A1-9EA) nasal spray; 1800 micrograms/d subdivided into six intranasal administrations of 300 micrograms each. MEASUREMENTS/MAIN RESULTS: Basal follicle-stimulating hormone, peak gonadotropin values (fluoro-immunoenzymatic method, Eurogenetics, Tessenderlo, Belgium; sensitivity was 0.5 IU/L for luteinizing hormone and 1 IU/L for follicle-stimulating hormone), and estradiol (radioimmunoassay method, DPC Kit, Los Angeles, Calif; sensitivity was 11.01 pmol/L) were significantly suppressed (P < .0001) as of the third month of treatment and increased significantly (P < .01) to pretreatment levels 6 months after discontinuation of therapy. Uterine and mean ovarian volumes, which were stable throughout treatment, appeared significantly higher (P < .05) than before treatment at only 6 months after stopping therapy. In patients with more advanced bone age (according to Greulich and Pyle) at onset of treatment, we observed a more significant improvement of SD score for height (Tanner). Mean adult height in our patients was 159.5 +/- 6.1 cm, and the variables that were significantly associated with final height were height age/bone age ratio at onset and target height (according to Tanner). CONCLUSIONS: Long-term buserelin treatment administered nasally is effective because of completeness of inhibition, quick reversibility after treatment is stopped, and lack of side effects. Its auxologic results are different depending on bone age advancement at onset, which represents a predictor of "therapeutic success." Further follow-up would be useful.

Administration, Intranasal↗

Longitudinal growth and final height in long-term survivors of childhood leukaemia.

Survival of children with acute lymphoblastic leukaemia (ALL) has increased considerably in recent years and data on the spontaneous growth and final height of these children are conflicting. Therefore, we analysed the longitudinal growth and final height in 52 survivors (33 females, 19 males) of childhood ALL. These children were diagnosed and treated in a single institution, all remained in first remission and were submitted to cranial irradiation with either 2400 or 1800 cGy. None of the patients received testicular or spinal irradiation. Median age at diagnosis was 4.2 (range 1.3-9.6) years in the first group (2400 cGy) and 3.9 (0.8-10.5) years in the second (1800 cGy). Standing height was measured at diagnosis, at the end of treatment (median 3.1 years after diagnosis), 6, 12, 24 months after the end of treatment, and finally at the completion of growth. In girls a significant decrease of mean height standard deviation score (SDS) during treatment and a catch up in growth after the end of therapy was followed by a second period of reduced growth. Mean final height SDS was significantly lower than the value at diagnosis in both groups of girls, but only in males treated with 2400 cGy. Mean overall loss in height SDS from diagnosis to final height was higher in females (-1.24) than in males (-0.40) (P = 0.009). Females < or = 4 years of age at diagnosis showed a higher loss in final height than females > 4 years.(ABSTRACT TRUNCATED AT 250 WORDS)

Age of Onset↗

Molecular study of human growth hormone gene cluster in three families with isolated growth hormone deficiency and similar phenotype.

The growth hormone (GH) gene (hGH-N) cluster was analysed using polymerase chain reaction, Southern and polymorphism analysis in five patients (including two pairs of siblings) with extreme short stature and absence of GH secretion. Patients 1 and 2 (siblings) were homozygous for a large deletion removing four genes of the cluster: hGH-N, hCS-L, hCS-A and hGH-V. Both siblings produced high anti-GH antibody levels in response to exogenous GH therapy, followed by growth arrest a few months after starting replacement therapy. In patient 3 we detected a heterozygous deletion which involved three genes of the cluster (hCS-A, hGH-V, hCS-B) and left an intact hGH-N gene. Direct sequencing of hGH-N specific amplified fragments excluded the presence of any point mutations in exons and splicing regions. In patients 4 and 5 (sisters) our study did not demonstrate any gene deletions. Analysis of polymorphic restriction patterns in this family demonstrated that both sisters inherited the same alleles from the father but different alleles from the mother, suggesting that the defect was not linked to the hGH-N gene. These results confirm the difficulty of clinical identification of subjects with hGH-N deletion and underline the importance of DNA analysis in patients with absence of GH secretion and extreme growth retardation.

Adolescent↗

Adrenocortical tumors in children: a report of 12 cases.

Adrenocortical tumors in children are extremely rare, accounting only for 0.3-0.4% of all neoplasms in this age. Most frequently they secrete hormones, resulting in virilization, Cushing's syndrome or feminization, while the non-functioning ones are unusual. The authors describe 12 cases observed in 13 years (1976-1989), with a mean age of 5 years. 9 cases showed virilization, 4 presented with Cushing's syndrome and in 5 patients an abdominal mass was palpable. One case was affected by Beckwith-Wiedemann's syndrome. I.V. urography was performed in 8 patients, arteriography in 4 and since 1982 all patients were submitted to abdominal sonography and CT scan or MR imaging. Urinary 17-ketosteroids, 17-hydroxycorticoids and serum testosterone and cortisol were tested in all children. Dexamethasone suppression test was performed in 7. All patients were treated with surgery which seems to be the most suitable treatment, while the real effectiveness of treatment by drug therapy with suppressors of steroidogenesis is not confirmed in children. Histopathological examination showed typical features of adenoma in 5 cases, of adenocarcinoma in 4, while three cases revealed border line forms classified as "atypical adenomas". At the moment 10 patients are alive with a follow-up ranging from 18 months to 14 years, while 2 children with adenocarcinoma are dead.

Adenocarcinoma↗

Empty sella in children and adolescents with possible hypothalamic-pituitary disorders.

Several computed tomographic scan studies have described empty sellae in children with hypothalamic-pituitary disorders. Magnetic resonance imaging, however, is a more precise technique for visualizing the intrasellar content, such as the stalk and pituitary lobes. Using magnetic resonance imaging, we studied 339 children and adolescents (mean age +/- SD, 12.7 +/- 4.5 yr) with possible hypothalamic-pituitary disorders to ascertain the frequency of primary empty sella and examine its relationships with other intrasellar abnormalities, pituitary function, and adverse perinatal events. One hundred and ninety-three patients had isolated GH deficiency, 43 had multiple pituitary hormone deficiency, 10 had diabetes insipidus, 17 had hypogonadotropic hypogonadism, 5 had idiopathic delayed puberty, 47 had precocious puberty, and 24 had other hypothalamic pituitary disorders of hyperfunction. One tenth (10.9%) of the patients (37 cases) had empty sella, with a marked variation of incidences among the disorders listed above. A statistically higher frequency of subjects with empty sellae was found only in patients with multiple pituitary hormone deficiency. Patients with and without empty sellae were not different in regard to age or sex. The incidence of empty sella in the various groups of patients was as follows: isolated GH deficiency, 8.8% (17 cases); multiple pituitary hormone deficiency, 34.9% (15 cases); hypogonadotropic hypogonadism, 5.9% (1 case); idiopathic delayed puberty, 40% (2 cases); and precocious puberty, 4.2% (2 cases). No patients with isolated diabetes insipidus or other hypothalamic-pituitary disorders had empty sellae. In the patients with empty sellae, abnormalities of the stalk or posterior lobe were found in 1 patient with isolated GH deficiency (5.9%), 13 patients with multiple pituitary hormone deficiency (86.7%), and no patients with puberty disorders. Likewise, adverse perinatal events were found only in 1 patient with isolated GH deficiency and 9 patients with multiple pituitary hormone deficiency. These findings suggest that empty sella is not rare in children and adolescents evaluated for hypothalamic-pituitary disorders, particularly if there is multiple pituitary hormone deficiency. Empty sella can be found regardless of abnormalities of the stalk and posterior lobe, and adverse perinatal events do not seem to be the primary etiological factor. Empty sella is usually associated with pituitary hypofunction, but it can be found in patients with hyperfunction of the hypothalamic-pituitary-gonadal axis.

Adolescent↗

Value and limits of pharmacological and physiological tests to diagnose growth hormone (GH) deficiency and predict therapy response: first and second retesting during replacement therapy of patients defined as GH deficient.

There is currently a debate about the use of pharmacological and physiological tests to define GH deficiency and predict response to GH therapy. In addition, a good response to therapy has also been described in subjects without GH deficiency. For further information, we reevaluated GH secretion during replacement therapy in a group of children defined as GH deficient and examined response to therapy in the subjects subdivided according to secretion. One hundred eighty four children (113 boys and 71 girls) initially diagnosed with GH deficiency by means of pharmacological (peak < 8 micrograms/L after arginine and L-dopa tests) and physiological tests (mean nocturnal concentration < or = 3.3 micrograms/L during sleep test) underwent the same tests 2.8 +/- 1.1 yr after start of GH therapy. Sixty eight patients were retested 1.5 +/- 0.4 yr after first retesting. At diagnosis 122 subjects had pathological pharmacological and physiological tests (group A), 30 subjects normal sleep test with pathological pharmacological tests (group B), and 32 subjects pathological sleep test with normal pharmacological tests (group C). At diagnosis 140 subjects were prepubertal and 44 pubertal. To evaluate response to therapy in relation to GH secretion at diagnosis and at both retestings, a number of auxological parameters were calculated during treatment. At first retesting, 107 subjects (58.1%) changed initial group of diagnosis, 34 of whom (18.5%) presented normal secretion in both pharmacological and physiological tests (group D). At second retesting, 31 of the 68 subjects reexamined (45.6%) changed first test results, and 33 (48.5%) reverted to the initial group of diagnosis; none of the 6 subjects of group D maintained normal secretion. Although the percentage of normalized subjects was higher in pubertal subjects (36.4%; P = 0.0003) than prepubertal subjects (8.9%), puberty did not prevent a reduction of secretion in some subjects. Response treatment during the first year of therapy was similar in the various groups. GH secretion seems to change in both prepubertal and pubertal children diagnosed with GH deficiency when pharmacological and physiological tests are repeated over time. Moreover, such tests may not represent a reliable tool for predicting response to treatment. GH secretion normalization at retesting may not necessarily represent the end of a transient secretory defect.

Adolescent↗

Magnetic resonance imaging of the pituitary area in children treated for acute lymphoblastic leukemia with low-dose (18-Gy) cranial irradiation. Relationships to growth and growth hormone secretion.

OBJECTIVE: To determine the effects of 18-Gy cranial irradiation on growth, growth hormone (GH) secretion, and pituitary magnetic resonance imaging in children who underwent previous irradiation for treatment of acute lymphoblastic leukemia. DESIGN: Clinical survey. SETTING: Department of Pediatrics of the University of Bologna (Italy). PATIENTS: Ten boys and 18 girls who were treated for acute lymphoblastic leukemia; median age at diagnosis was 3.1 years and at the end of follow-up was 11.5 years. MEASUREMENTS AND RESULTS: Height was periodically measured from diagnosis until the end of follow-up, when GH secretion study and magnetic resonance imaging were performed. The mean height SD score was significantly lower than at diagnosis only at the end of treatment. Nocturnal mean GH concentration and GH response to pharmacological tests (arginine and levodopa [L-dopa]) were pathological in 22 cases (81.5%) and 18 cases (64.3%), respectively. Sixteen cases (59.2%) had a blunted GH release to the three tests. Mean pituitary anterior lobe height was reduced and seven subjects (25%) showed an empty sella. CONCLUSIONS: Cranial irradiation with 18 Gy does not seem to influence the growth pattern of most children who are treated for acute lymphoblastic leukemia, despite severe impairment of GH secretion and morphological abnormalities of the sellar area. However, a follow-up until final height is necessary.

Adolescent↗

Growth and thyroid function in children treated with growth hormone.

We examined the effect of growth hormone (GH) therapy on thyroid function in 57 children with isolated GH deficiency and whether this effect could influence their growth response. Thyroid function and insulin-like growth factor I levels were measured before and after 3, 6, and 12 months of recombinant-GH therapy (20 U/m2 per week, given subcutaneously), after a 1-month withdrawal from therapy, and after a further 6 months of GH administration. The serum concentration of triiodothyronine (T3) and the T3/T4 (thyroxine) ratio increased after 12 months of GH treatment, whereas total T4 and free T4 levels decreased; thyrotropin levels did not change significantly during treatment but increased after a 1-month withdrawal. After a further 6 months of GH therapy, an increase in T3 levels and in the T3/T4 ratio and a decrease in total T4 and free T4 levels were found again, and thyrotropin levels decreased. The increment in growth velocity after 12 months of therapy correlated positively with the T3/T4 ratio and negatively with total T4 and free T4 values. These data confirm in children a GH-induced enhancement of peripheral conversion of T4 to T3. This effect appears to be more evident in children who are most sensitive to GH in terms of growth-promoting activity.

Child↗

Pitfalls in diagnosing impaired growth hormone (GH) secretion: retesting after replacement therapy of 63 patients defined as GH deficient.

Possible causes of error in the diagnosis of isolated GH deficiency are the variability of GH response to repeated tests, the existence of transient GH deficiencies, and the low GH levels found in short statured children with delayed puberty. Sixty-three patients with variously expressed GH deficiency were retested (1 sleep test and 2 pharmacological tests) after 1-3.9 yr of GH therapy (dose, 15 U/m2.week). Forty-eight subjects had arginine, L-dopa, and sleep tests (mean serum GH concentration) twice, while 15 had only arginine and L-dopa tests. All patients were retested 1 month after withdrawal from therapy. The criteria used to subdivide the patients were pubertal development and response to pharmacological and sleep tests at first diagnosis and on retesting. The initial diagnosis in 33 subjects (52.4%) was not confirmed, and 13 (20.6%) were no longer deficient on retesting. The percentage of normalization was high for the sleep test (43.9%), lower for the pharmacological test (24.5%), and lower still (12.9%) for pharmacological and sleep tests considered together. While none of the 28 subjects who remained prepubertal at retesting normalized in any of the tests, 13 of the 35 subjects retested during puberty did. When normalization was observed in pubertal subjects, it occurred predominantly in the sleep test. Growth velocity and height age/bone age increment ratio after the first year of therapy were no different for the groups of subjects classified according to GH secretion on retesting. Our study demonstrates that a number of children diagnosed as GH deficient do not have a true deficiency. However, such a diagnostic error seems to have little effect, at least in the first year of therapy, on the effectiveness of GH treatment.

Adolescent↗