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1.
J Pediatr Endocrinol Metab ; 31(8): 887-894, 2018 Aug 28.
Article in English | MEDLINE | ID: mdl-30052519

ABSTRACT

Background During the transition phase (TP), patients with growth hormone deficiency (GHD) exhibit decreased muscle strength. Studies assessing the effects of resistance exercise alone on muscle strength in these individuals are scarce. The objective of this study was to evaluate the effects of a program of resistance exercise (PRE) on parameters of muscle strength in subjects in the TP and with childhood-onset GHD treated with recombinant GH (rGH). Methods Sixteen male patients were enrolled and divided into two groups: GHD (n=9) and GH sufficiency (GHS, n=7). Patients with GHD underwent a 12-week PRE followed by another 12-week PRE plus rGH, while GHS patients underwent a 12-week PRE alone. Dynamic knee muscle strength was evaluated using an isokinetic dynamometer. Results Before PRE, there were significant differences between the groups regarding the results of flexor peak torque (FPT) normalized to body weight (BW-FPT) in the dominant (DO, p=0.008) and non-dominant (ND, p=0.01) limbs, and in the agonist/antagonist (A/A) ratio in the DO (p=0.02) and ND (p=0.006) limbs. After PRE in the GHD group, values of FPT and BW-FPT in both limbs increased significantly (p<0.001) and independently of rGH, while the A/A ratio value improved significantly (p<0.001) in the ND limb. Conclusions A short period of PRE alone was sufficient to improve parameters of muscle strength in young male adults with childhood-onset GHD.


Subject(s)
Dwarfism, Pituitary/therapy , Exercise Therapy/methods , Human Growth Hormone/deficiency , Muscle Strength/physiology , Resistance Training , Adolescent , Adult , Body Composition , Body Weight , Dwarfism, Pituitary/physiopathology , Female , Follow-Up Studies , Humans , Male , Prognosis , Retrospective Studies , Young Adult
2.
Horm Res Paediatr ; 84(4): 275-82, 2015.
Article in English | MEDLINE | ID: mdl-26279340

ABSTRACT

BACKGROUND/AIMS: Splicing CYP19 gene variants causing aromatase deficiency in 46,XX disorder of sexual development (DSD) patients have been reported in a few cases. A misbalance between normal and aberrant splicing variants was proposed to explain spontaneous pubertal breast development but an incomplete sex maturation progress. The aim of this study was to functionally characterize a novel CYP19A1 intronic homozygote mutation (IVS9+5G>A) in a 46,XX DSD girl presenting spontaneous breast development and primary amenorrhea, and to evaluate similar splicing variant expression in normal steroidogenic tissues. METHODS: Genomic DNA analysis, splicing prediction programs, splicing assays, and in vitro protein expression and enzyme activity analyses were carried out. CYP19A1 mRNA expression in human steroidogenic tissues was also studied. RESULTS: A novel IVS9+5G>A homozygote mutation was found. In silico analysis predicts the disappearance of the splicing donor site in intron 9, confirmed by patient peripheral leukocyte cP450arom and in vitro studies. Protein analysis showed a shorter and inactive protein. The intron 9 transcript variant was also found in human steroidogenic tissues. CONCLUSIONS: The mutation IVS9+5G>A generates a splicing variant that includes intron 9 which is also present in normal human steroidogenic tissues, suggesting that a misbalance between normal and aberrant splicing variants might occur in target tissues, explaining the clinical phenotype in the affected patient.


Subject(s)
Amenorrhea/genetics , Aromatase/deficiency , Adolescent , Adrenal Glands/metabolism , Amenorrhea/metabolism , Animals , Aromatase/genetics , Aromatase/metabolism , COS Cells , Cell Line , Chlorocebus aethiops , Female , Humans , Male , Mice , Mutation , Phenotype , Placenta/metabolism , Pregnancy , Protein Splicing , Testis/metabolism
3.
Arq Bras Endocrinol Metabol ; 55(5): 318-25, 2011 Jun.
Article in Portuguese | MEDLINE | ID: mdl-21881814

ABSTRACT

OBJECTIVE: To report the final height (FH) of 76 patients with Turner syndrome (TS). MATERIALS AND METHODS: Review of the files and calculation of z scores: of target height (TH), and FH according to NCHS/CDC/2000 and FH according to Lyon and cols. RESULTS: Patients were classified in three groups: A (n = 16), treatment with estrogens and progestogens; B (n = 21), treatment with oxandrolone (OX); C (n = 39), growth hormone (GH) plus OX. The z score of TH was not different among the groups and z score of FH was not different between A e B. Z score of FH of group C was greater than the other groups, > 2SDS of Lyon's curve and fitted on the 3(rd) percentile of NCHS/CDC. Multiple regression analysis showed type of treatment (p < 0.001) and maternal height (p = 0.02) as most influencing factors on FH. CONCLUSION: GH plus OX and maternal height contributed significantly to enhance FH of TS patients.


Subject(s)
Androgens/therapeutic use , Body Height/drug effects , Estrogens/therapeutic use , Human Growth Hormone/therapeutic use , Progestins/therapeutic use , Turner Syndrome/drug therapy , Adolescent , Age Determination by Skeleton , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Oxandrolone/therapeutic use , Puberty/physiology , Regression Analysis , Treatment Outcome , Turner Syndrome/diagnosis
4.
Arq. bras. endocrinol. metab ; 55(5): 318-325, June 2011. ilus, tab
Article in Portuguese | LILACS | ID: lil-604161

ABSTRACT

Objetivo: Relatar estatura final (EF) em 76 pacientes com síndrome de Turner (ST). Materiais e métodos: Revisão de prontuários e avaliação dos escores z: da estatura alvo (EA) e EF segundo o NCHS/CDC/2000 e da EF segundo Lyon e cols. Resultados: Pacientes foram classificados em três grupos: A (n = 16), tratamento com estrogênios e progestágenos; B (n = 21), tratamento com oxandrolona; C (n = 39), tratamento com hormônio de crescimento (GH) e oxandrolona. Não houve diferença no escore z da EA entre os grupos e no escore z da EF entre A e B. O escore z da EF do grupo C foi maior que o dos outros grupos, maior que 2 DP segundo Lyon e no percentil 3 da curva NCHS/CDC. Análise de regressão múltipla mostrou tipo de tratamento (p < 0,001) e estatura materna (p = 0,02) como fatores que mais influenciaram a EF. Conclusão: GH mais OX e estatura materna contribuíram significativamente para aumento da EF na ST.


Objective: To report the final height (FH) of 76 patients with Turner syndrome (TS). Materials and methods: Review of the files and calculation of z scores: of target height (TH), and FH according to NCHS/CDC/2000 and FH according to Lyon and cols. Results: Patients were classified in three groups: A (n = 16), treatment with estrogens and progestogens; B (n = 21), treatment with oxandrolone (OX); C (n = 39), growth hormone (GH) plus OX. The z score of TH was not different among the groups and z score of FH was not different between A e B. Z score of FH of group C was greater than the other groups, > 2SDS of Lyon's curve and fitted on the 3rd percentile of NCHS/CDC. Multiple regression analysis showed type of treatment (p < 0.001) and maternal height (p = 0.02) as most influencing factors on FH. Conclusion: GH plus OX and maternal height contributed significantly to enhance FH of TS patients.


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Androgens/therapeutic use , Body Height/drug effects , Estrogens/therapeutic use , Human Growth Hormone/therapeutic use , Progestins/therapeutic use , Turner Syndrome/drug therapy , Age Determination by Skeleton , Follow-Up Studies , Oxandrolone/therapeutic use , Puberty/physiology , Regression Analysis , Treatment Outcome , Turner Syndrome/diagnosis
5.
Hered Cancer Clin Pract ; 4(2): 81-9, 2006 May 15.
Article in English | MEDLINE | ID: mdl-20223012

ABSTRACT

Childhood adrenocortical tumour (ACT) is not a common disease, but in southern Brazil the prevalence is 15 times higher than in other parts of the world. One hundred and thirty-seven patients have been identified and followed by our group over the past four decades. Affected children are predominantly girls, with a female-to-male ratio of 3.5:1 in patients below 4 years of age. Virilization alone (51.6%) or mixed with Cushing's syndrome (42.0%) was the predominant clinical picture observed in these patients. Tumours are unilateral, affecting both glands equally. TP53 R337H germline mutations underlie most childhood ACTs in southern Brazil. Epidemiological data from our casuistic studies revealed that this mutation has ~10% penetrance for ACT. Surgery is the definitive treatment, and a complete resection should always be attempted. Although adjuvant chemotherapy has shown some encouraging results, its influence on overall outcome is small. The survival rate is directly correlated to tumour size; patients with small, completely excised tumours have survival rates close to 90%, whereas in those patients with inoperable tumours and/or metastatic disease it is less than 10%. In the group of patients with large, excisable tumours, half of them have an intermediate outcome. Recent molecular biology techniques and genomic approaches may help us to better understand the pathogenesis of ACT, the risk of developing a tumour when TP53 R337H is present, and to predict its outcome. An ongoing pilot study consisting of close monitoring of healthy carriers of the TP53 R337H mutation - siblings and first-degree relatives of known affected cases - aims at the early detection of ACTs and an improvement of the cure rate.

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