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1.
BMC Endocr Disord ; 22(1): 201, 2022 Aug 09.
Artículo en Inglés | MEDLINE | ID: mdl-35945517

RESUMEN

BACKGROUND: To evaluate the effectiveness of individualized-dose polyethylene glycol recombinant human growth hormone (PEG-rhGH) for short stature. METHODS: This real-world study enrolled children with short stature in 19 hospitals throughout China. They were treated with PEG-rhGH for 6 months. The starting dosage ranged from 0.10 to 0.20 mg/kg/week. The primary outcome was the change in height standard deviation score (ΔHt SDS). RESULTS: Five hundred and ten patients were included and grouped based on dosage as A (0.10-0.14 mg/kg/week), B (0.15-0.16 mg/kg/week), C (0.17-0.19 mg/kg/week), and D (0.20 mg/kg/week). The mean 6-month ΔHt SDS for the total cohort was 0.49 ± 0.27, and the means differed among the four dose groups (P = 0.002). The ΔHt SDS was lower in group A than in groups B (LSM difference [95%CI], -0.09 [-0.17, -0.01]), C (LSM difference [95%CI], -0.10 [-0.18, -0.02]), and D (LSM difference [95%CI], -0.13 [-0.21, -0.05]) after adjusting baseline covariates. There were no significant differences among groups B, C, and D. When the baseline IGF-1 was < -2 SDS or > 0 SDS, the △Ht SDS was not different among the four groups (P = 0.931 and P = 0.400). In children with baseline IGF-1 SDS of -2 ~ 0 SDS, a higher dosage was associated with a better treatment effect (P = 0.003), and the △Ht SDS was lower in older children than in younger ones (P < 0.001). CONCLUSIONS: PEG-rhGH could effectively increase height in prepubertal short children. When the baseline IGF-1 was < -2 SDS, 0.10 mg/kg/week could be a starting dose. In other IGF-1 statuses, 0.15-0.20 mg/kg/week might be preferred. TRIAL REGISTRATION: ClinicalTrials.gov: NCT03249480 , retrospectively registered.


Asunto(s)
Enanismo , Hormona de Crecimiento Humana , Estatura , Niño , Trastornos del Crecimiento/tratamiento farmacológico , Hormona de Crecimiento Humana/análogos & derivados , Hormona de Crecimiento Humana/uso terapéutico , Humanos , Factor I del Crecimiento Similar a la Insulina , Polietilenglicoles
2.
J Clin Endocrinol Metab ; 108(8): 2078-2086, 2023 Jul 14.
Artículo en Inglés | MEDLINE | ID: mdl-36669772

RESUMEN

CONTEXT: The evidence of long-term polyethylene glycol recombinant human GH (PEG-rhGH) in pediatric GH deficiency (GHD) is limited. OBJECTIVE: This study aimed to examine the effectiveness and safety of long-term PEG-rhGH in children with GHD in the real world, as well as to examine the effects of dose on patient outcomes. DESIGN: A prospective, observational, posttrial study (NCT03290235). SETTING, PARTICIPANTS AND INTERVENTION: Children with GHD were enrolled from 81 centers in China in 4 individual clinical trials and received weekly 0.2 mg/kg/wk (high-dose) or 0.1 to <0.2 mg/kg/wk (low-dose) PEG-rhGH for 30 months. MAIN OUTCOMES MEASURES: Height SD score (Ht SDS) at 12, 24, and 36 months. RESULTS: A total of 1170 children were enrolled in this posttrial study, with 642 patients in the high-dose subgroup and 528 in the low-dose subgroup. The Ht SDS improved significantly after treatment in the total population (P < 0.0001), with a mean change of 0.53 ± 0.30, 0.89 ± 0.48, 1.35 ± 0.63, 1.63 ± 0.75 at 6 months, 12 months, 24 months, and 36 months, respectively. In addition, the changes in Ht SDS from baseline were significantly improved in the high-dose subgroup compared with the low-dose subgroup at 6, 12, 24, and 36 months after treatment (all P < 0.05). A total of 12 (1.03%) patients developed serious adverse events. There was no serious adverse event related to the treatment, and no AEs leading to treatment discontinuation or death occurred. CONCLUSIONS: PEG-rhGH showed long-term effectiveness and safety in treating children with GHD. Both dose subgroups showed promising outcomes, whereas PEG-rhGH 0.2 mg/kg/wk might show additional benefit.


Asunto(s)
Enanismo Hipofisario , Hormona de Crecimiento Humana , Humanos , Niño , Estudios Prospectivos , Hormona de Crecimiento Humana/uso terapéutico , Trastornos del Crecimiento/tratamiento farmacológico , Enanismo Hipofisario/tratamiento farmacológico , Factor I del Crecimiento Similar a la Insulina , Polietilenglicoles/efectos adversos , Proteínas Recombinantes/efectos adversos
3.
Diabetes Care ; 42(8): 1414-1421, 2019 08.
Artículo en Inglés | MEDLINE | ID: mdl-31152121

RESUMEN

OBJECTIVE: Type 1 diabetes (T1D) is a highly heritable disease with much lower incidence but more adult-onset cases in the Chinese population. Although genome-wide association studies (GWAS) have identified >60 T1D loci in Caucasians, less is known in Asians. RESEARCH DESIGN AND METHODS: We performed the first two-stage GWAS of T1D using 2,596 autoantibody-positive T1D case subjects and 5,082 control subjects in a Chinese Han population and evaluated the associations between the identified T1D risk loci and age and fasting C-peptide levels at T1D diagnosis. RESULTS: We observed a high genetic correlation between children/adolescents and adult T1D case subjects (r g = 0.87), as well as subgroups of autoantibody status (r g ≥ 0.90). We identified four T1D risk loci reaching genome-wide significance in the Chinese Han population, including two novel loci, rs4320356 near BTN3A1 (odds ratio [OR] 1.26, P = 2.70 × 10-8) and rs3802604 in GATA3 (OR 1.24, P = 2.06 × 10-8), and two previously reported loci, rs1770 in MHC (OR 4.28, P = 2.25 × 10-232) and rs705699 in SUOX (OR 1.46, P = 7.48 × 10-20). Further fine mapping in the MHC region revealed five independent variants, including another novel locus, HLA-C position 275 (omnibus P = 9.78 × 10-12), specific to the Chinese population. Based on the identified eight variants, we achieved an area under the curve value of 0.86 (95% CI 0.85-0.88). By building a genetic risk score (GRS) with these variants, we observed that the higher GRS were associated with an earlier age of T1D diagnosis (P = 9.08 × 10-11) and lower fasting C-peptide levels (P = 7.19 × 10-3) in individuals newly diagnosed with T1D. CONCLUSIONS: Our results extend current knowledge on genetic contributions to T1D risk. Further investigations in different populations are needed for genetic heterogeneity and subsequent precision medicine.


Asunto(s)
Factores de Edad , Antígenos CD/genética , Butirofilinas/genética , Diabetes Mellitus Tipo 1/genética , Factor de Transcripción GATA3/genética , Sitios Genéticos/genética , Adolescente , Adulto , Pueblo Asiatico/genética , Autoanticuerpos/sangre , Péptido C/sangre , Niño , China , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/inmunología , Ayuno/sangre , Femenino , Estudio de Asociación del Genoma Completo , Antígenos de Histocompatibilidad Clase I/genética , Humanos , Masculino , Oportunidad Relativa , Oxidorreductasas actuantes sobre Donantes de Grupos Sulfuro/genética , Factores de Riesgo
4.
Biomed Res Int ; 2018: 5732694, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30671461

RESUMEN

OBJECTIVE: To describe the demographic features of children with short stature and poor growth in the south of China and provide better guidance on clinical strategy and decisions. STUDY DESIGN: This retrospective, chart review study analyzed children with short stature and poor growth admitted to the Department of Endocrinology of Children's Hospital of Nanjing Medical University from Jan 2007 to Dec 2015. RESULTS: The chart review yielded 4142 patients, including 2546 boys and 1596 girls (P < 0.001); the number of patients gradually increased per year from 2007 to 2015. There was an upward trend in the average levels of height standard deviations (SDs) during the study period (P < 0.001), both in males (P < 0.001) and females (P < 0.001). Mean height SDs were smaller in females (-2.42±1.09) than males (-2.33±1.03; P = 0.01). The percentage of females admitted at normal height (33.83%) was lower than that of males (37.20%; P = 0.028). The peak age range of hospitalization in males was 10-12 years of age, while females were generally admitted earlier-8-10 years. CONCLUSIONS: There was an increasing tendency to focus on children's height. Parents and pediatricians were recommended to pay more attention to the treatment needs of girls while avoiding excessive treatment of those who merely appear not to be tall enough without a clear medical issue related to growth, especially for boys.


Asunto(s)
Enanismo/epidemiología , Trastornos del Crecimiento/epidemiología , Estatura/fisiología , Niño , China/epidemiología , Femenino , Humanos , Masculino , Estudios Retrospectivos
5.
Int J Clin Exp Med ; 8(10): 19132-7, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26770544

RESUMEN

Combined with the literature, recognize the clinical features and molecular genetic mechanism of the disease. 17a-hydroxylase/17,20-lyase deficiency, a rare form of congenital adrenal hyperplasia, is caused by mutations in the cytochrome P450c17 gene (CYP17A1), and characterized by hypertension, hypokalemia, female sexual infantilism or male pseudohermaphroditism. We presented the clinical and biochemical characterization in two patients (a 13 year-old girl (46, XX) with hypokalemia and lack of pubertal development, a 11 year-old girl (46, XY) with female external genitalia and severe hypertension). CYP17A1 mutations were detected by PCR and direct DNA sequencing in patients and their parents. A homozygous mutation c.985_987delTACinsAA (p.Y329KfsX418) in Exon 6 was found in patient 1, and a homozygous deletion mutation c.1459_1467delGACTCTTTC (p.Asp487_Phe489del) in exon 8 in patient 2. The patients manifested with hypertension, hypokalemia, sexual infantilism should be suspected of having 17a-hydroxylase/17,20-lyase deficiency. Definite diagnosis is depended on mutation analysis. Hydrocortisone treatment in time is crucial to prevent severe hypertension and hypokalemia.

6.
World J Pediatr ; 10(3): 278-80, 2014 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25124981

RESUMEN

BACKGROUND: The hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by GATA3 gene mutation. We report here a case that both of a Chinese boy and his father had HDR syndrome which caused by a novel mutation of GATA3. METHODS: Polymerase chain reaction and DNA sequencing was performed to detect the exons of the GATA3 gene for mutation analysis. RESULTS: Sequence analysis of GATA3 revealed a heterozygous nonsense mutation in this family: a mutation of GATA3 at exon 2 (c.515C >A) that resulted in a premature stop at codon 172 (p.S172X) with a loss of two zinc finger domains. CONCLUSION: We identified a novel nonsense mutation which will expand the spectrum of HDR-associated GATA3 mutations.


Asunto(s)
Pueblo Asiatico/genética , Codón sin Sentido , Sordera/genética , Factor de Transcripción GATA3/genética , Hipoparatiroidismo/genética , Riñón Displástico Multiquístico/genética , Adulto , Biomarcadores/sangre , Niño , Sordera/diagnóstico , Exones/genética , Padre , Humanos , Hipoparatiroidismo/diagnóstico , Masculino , Riñón Displástico Multiquístico/diagnóstico , Linaje , Reacción en Cadena de la Polimerasa , Análisis de Secuencia de ADN , Síndrome
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