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2.
Pediatr Med Chir ; 35(4): 183-6, 2013.
Artigo em Italiano | MEDLINE | ID: mdl-24245101

RESUMO

UNLABELLED: Klinefelter syndrome (KS) is the most frequent chromosomal aneuploidy with a prevalence of 1:500 men but it often remains a largely undiagnosed condition and only 10% of cases are identified in childhood and adolescence. We report the anamnestic, clinical and auxological findings of 14 KS patients diagnosed in paediatric age. 3/14 patients (21%) with KS were diagnosed in prenatal age by amniocentesis, 1 patient was diagnosed at birth due to genital ambiguity and the remaining 10/14 (71.4%) were diagnosed at a chronological age younger than 15 years old for a clinical picture characterized by a peculiar cognitive and behavioral pattern or genital anomalies and abnormalities of pubertal development. The classical karyotype 47 XXY was present in 10/14 subjects (72%), a mosaic form (46 XY/47 XXY) was present in 2/14 (14%) and a complex aneuploidy (48 XXYY and 48 XXXY)was present in the remaining 2/14 (14%) patients. All KS patients diagnosed in childhood and adolescence (10/14 =71.4 %) showed a stature taller than the respective target height and also the predicted final height (calculated from a chronological age older than 7 years old) and the reached final height were significantly taller than target height. CONCLUSION: according to our retrospective data we can assert that KS in paediatric age is characterized by a stature taller than target


Assuntos
Síndrome de Klinefelter/diagnóstico , Adolescente , Criança , Pré-Escolar , Crescimento , Humanos , Recém-Nascido , Síndrome de Klinefelter/fisiopatologia , Masculino , Estudos Retrospectivos
3.
Horm Res Paediatr ; 78(3): 151-7, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23006743

RESUMO

BACKGROUND: To date, there is no agreement about the frequency or the features of thyroid abnormalities in McCune-Albright syndrome (MAS). The aim of our study was to detect thyroid abnormalities in a cohort of MAS children and adolescents and to give indications for their treatment and follow-up. METHODS: In 36 patients, 22 females and 14 males, thyroid function and sonographic features of thyroid were evaluated every 6-12 months. RESULTS: Three males and 1 female had hyperthyroidism: 2 with nodular, 2 with diffuse goiters. They were treated with methimazole (0.2-0.5 mg/kg/day) with good clinical and biochemical responses. The remaining 32 patients were euthyroid, even if 7 displayed sonographic alterations, of whom 5 had nodular goiter with nodules >1 cm, and 2 micronodular goiter. Fine-needle aspiration biopsy was performed in 2 patients with nodules >1 cm, 1 showing hemorrhagic nodule and 1 colloid cystic nodule. CONCLUSIONS: Prevalence of thyroid alterations in the studied MAS series was 31%. 64% of 11 patients with thyroid alterations had nodular goiters, with nodules >1 cm. As the onset of thyroid disease ranged from 1 to 20 years, a strict monitoring of thyroid function is recommended every 6 months. Satisfactory treatment can be obtained and maintained with antithyroid drugs.


Assuntos
Antitireóideos/administração & dosagem , Displasia Fibrosa Poliostótica , Metimazol/administração & dosagem , Doenças da Glândula Tireoide , Glândula Tireoide/metabolismo , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Displasia Fibrosa Poliostótica/complicações , Displasia Fibrosa Poliostótica/tratamento farmacológico , Displasia Fibrosa Poliostótica/epidemiologia , Displasia Fibrosa Poliostótica/metabolismo , Seguimentos , Humanos , Lactente , Masculino , Prevalência , Estudos Retrospectivos , Doenças da Glândula Tireoide/complicações , Doenças da Glândula Tireoide/tratamento farmacológico , Doenças da Glândula Tireoide/epidemiologia , Doenças da Glândula Tireoide/metabolismo , Glândula Tireoide/patologia
5.
Horm Res Paediatr ; 76(4): 221-5, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21811047

RESUMO

AIMS: To ascertain the prevalence of Graves' disease (GD) in 1,323 Caucasian children with type 1 diabetes mellitus (T1DM), and to compare the course of GD in T1DM patients with the one observed in 109 Caucasian peer patients with GD but without T1DM (group B). RESULTS: Only 7 patients (0.53%) of the T1DM series also presented with GD (group A)which was diagnosed many years after diabetes presentation. At GD diagnosis, the prevalence of preclinical hyperthyroidism was higher in group A (p = 0.0001), whereas serum TSH receptor antibodies (TRABs) were higher in group B (p = 0.04). The subsequent course with methimazole therapy and after its withdrawal was very similar in both groups. CONCLUSIONS: GD prevalence in T1DM patients was 0.53%, i.e. almost identical to the one reported in the general population. GD was diagnosed many years after T1DM presentation. At GD diagnosis, the clinical picture was milder and TRAB serum levels were lower in diabetic patients. Preclinical diagnosis and early treatment of GD were not associated with better responsiveness to therapy. Screening programs based on periodical TRAB assessments are not useful in T1DM.


Assuntos
Diabetes Mellitus Tipo 1/complicações , Doença de Graves/epidemiologia , Adolescente , Criança , Pré-Escolar , Progressão da Doença , Feminino , Doença de Graves/tratamento farmacológico , Doença de Graves/etiologia , Doença de Graves/fisiopatologia , Humanos , Hipertireoidismo , Imunoglobulinas Estimuladoras da Glândula Tireoide , Masculino , Metimazol/uso terapêutico , Prevalência , Prognóstico , Receptores da Tireotropina/imunologia , Estudos Retrospectivos , Tireoidite Autoimune/etiologia
7.
J Endocrinol Invest ; 34(4): 292-5, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20543555

RESUMO

BACKGROUND: GH-IGF-I axis is mainly involved in the complex process of somatic growth but emerging evidence suggests that it also influences hypothalamic-pituitary-gonadal (HPG) function. SUBJECTS: We report some data regarding long-term auxological and pubertal outcome of five female patients with hereditary forms of GH-IGF-I deficiency (Laron and GH-gene deletion syndrome) and a mean age of 23.4±5.3 yr (range 19-32). METHODS: All the patients received recombinant human IGF-I (rhIGF-I, Pharmacia and Upjohn, Stockholm, Sweden, and rhIGF-I, Genentech, San Francisco, CA, USA) from a mean age of 8.6 yr (range 3.2-14.2) up to the final height. RESULTS: Final height was very disappointing (≤ -5.0 SD scores) and lower than target height in all the patients. Pubertal onset was delayed in most of them but menarche occurred spontaneously in all the patients. Median age at menarche was 15.1 yr. Menstrual cycles were regular for several years. Median duration of gynecological follow- up was 8.3 yr with the longest span of 17.2 yr. CONCLUSION: We can assert that GH-IGF-I axis has an essential role in promoting linear growth in humans and its physiological action cannot be replaced by pharmacological treatment in most patients with hereditary forms of IGF-I insufficiency as demonstrated by their subnormal final height. Our clinical observations can also support an essential role of IGF-I in genitalia growth but not in the function of HPG axis as demonstrated by the maintenance of regular menstrual cycles in the presence of subnormal levels of IGF-I after treatment discontinuation.


Assuntos
Hormônio do Crescimento Humano/genética , Fator de Crescimento Insulin-Like I/deficiência , Fator de Crescimento Insulin-Like I/uso terapêutico , Síndrome de Laron/fisiopatologia , Puberdade/fisiologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Hormônio do Crescimento Humano/deficiência , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Síndrome de Laron/genética , Ciclo Menstrual/fisiologia , Proteínas Recombinantes/uso terapêutico , Adulto Jovem
15.
J Endocrinol Invest ; 31(4): 341-5, 2008 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18475053

RESUMO

UNLABELLED: The aim of the present study was to retrospectively re-evaluate a population of selected infants with congenital hypothyroidism (CH), in order to investigate whether sexual dimorphism affects: a) CH etiology; b) its biochemical severity at the time of screening and recall; c) patients' biochemical response to replacement treatment during the 1st yr of life; d) their bone maturation (BM) at birth; e) their psychomotor status at 1 yr. This retrospective study covers 192 infants (116 females) with persistent CH who were selected from a larger population of CH patients identified during a 10-yr period (1990-1999) by the screening programs of 5 northern, central, and southern regions of Italy. Thirty boys (39.5%) and 66 girls (56.9%) were found to have ectopia, whereas the remaining 46 boys and 50 girls exhibited the other causes of CH. When compared with the prevalence of the remaining causes that of ectopia was significantly higher in girls than in boys (66/116 vs 30/76; chi2=5.57, p<0.025), and sex ratio in ectopia was significantly different also compared with the orthotopic gland group only (66/84 vs 30/51; chi2=6.02, p<0.025). No differences between males and females were detected in the groups with either athyreosis or orthotopic gland. In no groups were there differences between sexes for gestational age, birth auxological data, percentage of newborns with bone retardation or developmental quotient at 1 yr. Thyroid tests at birth, age at TSH normalization and average thyroid tests under L-T4 treatment during the 1st yr did not differ between sexes in any of the groups. CONCLUSIONS: a) in the Italian population sexual dimorphism affects pre-natal thyroid migration but neither biochemical severity of ectopia, nor pre-natal bone maturation and psychomotor development; b) girls with CH do not require higher doses of initial therapy in order to achieve TSH normalization; c) future developmental and molecular studies on ectopia etiology in CH need to take into account the effect of sexual dimorphism.


Assuntos
Desenvolvimento Ósseo/fisiologia , Diagnóstico Pré-Natal , Caracteres Sexuais , Disgenesia da Tireoide/diagnóstico , Disgenesia da Tireoide/metabolismo , Movimento Celular/fisiologia , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/metabolismo , Hipotireoidismo Congênito/fisiopatologia , Feminino , Humanos , Lactente , Recém-Nascido , Itália , Masculino , Gravidez , Estudos Retrospectivos , Disgenesia da Tireoide/fisiopatologia , Glândula Tireoide/embriologia , Glândula Tireoide/metabolismo
16.
J Endocrinol Invest ; 31(1): 79-84, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18296910

RESUMO

Subclinical hypothyroidism (SH) is a common clinical problem, particularly in adulthood and the elderly. Its prevalence is conditioned by several etiological and risk factors. The highest age- and sex-specific rates are in women over 60. SH may be associated with manifestations of mild thyroid failure, which may reverse under levothyroxine (L-T4) therapy. The risk of progression to overt hypothyroidism is distinctly higher in cases with underlying thyroid disease. A population routine screening is not generally recommended, but screening is encouraged in high-risk groups. L-T4 therapy may be indicated in subjects with TSH levels which are repeatedly and consistently elevated (>10 microIU/ml) and may be considered in those with TSH ranging between 4.5-5.5 and 10 microIU/ml, particularly if anti-thyroid antibodies are positive and/or hypothyroid symptoms are present. Treatment should be based, at least initially, on L-T4 low doses.


Assuntos
Hipotireoidismo/diagnóstico , Hipotireoidismo/terapia , Algoritmos , Progressão da Doença , Diagnóstico Precoce , Humanos , Hipotireoidismo/epidemiologia , Hipotireoidismo/etiologia , Prevalência , Fatores de Risco , Testes de Função Tireóidea
17.
Horm Res ; 69(2): 124-8, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18059093

RESUMO

Short stature is a well-recognized feature of Duchenne muscular dystrophy, whilst it has been reported rarely in Becker muscular dystrophy (BMD). Here we report two brothers with BMD, who exhibited a very different growth pattern. Whereas in the short brother (-2.2 SDS) molecular investigation revealed a G367A mutation in the short stature homeobox containing (SHOX) gene located in the Xp22.3 region, no abnormality was found in the brother with normal height (-0.1 SDS). Our data suggest that abnormal growth observed in a boy with BMD may be related to an additional genetic alteration, already known as correlated with short stature.


Assuntos
Transtornos do Crescimento/genética , Proteínas de Homeodomínio/genética , Distrofia Muscular de Duchenne/genética , Sequência de Bases , Criança , Pré-Escolar , Análise Mutacional de DNA , Humanos , Mutação , Proteína de Homoeobox de Baixa Estatura
18.
J Pediatr Endocrinol Metab ; 20(6): 677-84, 2007 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-17663292

RESUMO

Turner's syndrome (TS) is a chromosomal disorder that results from the loss of the entire or a part of the X-chromosome and occurs in 1/2,500 female births. According to the majority of specific reports, intelligence in TS is generally found to be normal and the prevalence of mental retardation does not seem to be increased in TS except for those patients with a small ring X-chromosome. We evaluated 33 girls with TS with chronological age from 6-18 years. Intellectual assessment included the WISC III and the WAIS-R scales. Our results showed: 1) mean full scale intelligence quotient (FSIQ) was significantly lower than expected based on normative data (p < 0.0005); 2) no correlation was present between height and general intellectual ability; 3) mean performance intelligence quotient (PIQ) was significantly lower than both mean verbal intelligence quotient (VIQ) and FSIQ (p < 0.0025 and p < 0.01, respectively), and most patients had a VIQ-PIQ discrepancy; 4) the frequency of mental retardation in our study group was significantly higher than that observed in the general population (15.1% vs 2.3%, p < 0.025); 5) a significant association was found between karyotype and VIQ, and the best score was achieved in the subgroup of patients with structural abnormalities of the X-chromosome. In the light of these findings we conclude that the clinical picture in TS may encompass a slightly reduced FSIQ, VIQ and especially an inadequate PIQ, but this neurocognitive profile is not significantly affected by statural impairment. Since these neurocognitive defects can be responsible for misdiagnosed school difficulties, we suggest that girls with TS should receive specialized educational support and multidisciplinary care.


Assuntos
Transtornos Cognitivos/fisiopatologia , Transtornos do Crescimento/fisiopatologia , Deficiência Intelectual/fisiopatologia , Inteligência , Síndrome de Turner/fisiopatologia , Adolescente , Criança , Aberrações Cromossômicas , Transtornos Cognitivos/epidemiologia , Transtornos Cognitivos/genética , Feminino , Transtornos do Crescimento/epidemiologia , Transtornos do Crescimento/genética , Humanos , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/genética , Deficiências da Aprendizagem/epidemiologia , Deficiências da Aprendizagem/genética , Deficiências da Aprendizagem/fisiopatologia , Mosaicismo , Prevalência , Síndrome de Turner/epidemiologia , Síndrome de Turner/genética
19.
J Endocrinol Invest ; 29(1): 82-5, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16553039

RESUMO

The clinical implications of the association between testicular microlithiasis (TM) and germ cell tumor (GCT) of the testis are still debated since the natural history of incidentally discovered TM has not been defined. Therefore, it is questionable whether TM can be considered as a precursor of malignancy. We are reporting the case of a 9-yr-old boy with a mixed GCT who had presented 3 yr earlier with TM and hydrocele. This evolution suggests that testicular GCT may develop some years later in a boy with pre-existing and incidentally discovered TM. Our case history and other reports of the literature might suggest a strong association between both conditions, thus vindicating the view that individuals with TM should have clinical and ultrasound follow-up. Longitudinal evaluation may be particularly indicated in the patients with additional testicular dysgenetic features, apart from TM.


Assuntos
Litíase/diagnóstico , Neoplasias Embrionárias de Células Germinativas/diagnóstico , Doenças Testiculares/diagnóstico , Criança , Humanos , Litíase/diagnóstico por imagem , Litíase/patologia , Masculino , Neoplasias Embrionárias de Células Germinativas/diagnóstico por imagem , Neoplasias Embrionárias de Células Germinativas/patologia , Doenças Testiculares/diagnóstico por imagem , Doenças Testiculares/patologia , Neoplasias Testiculares/diagnóstico , Neoplasias Testiculares/diagnóstico por imagem , Neoplasias Testiculares/patologia , Ultrassonografia
20.
J Endocrinol Invest ; 28(8): 720-6, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16277168

RESUMO

Elevated liver enzymes can be seen relatively frequently in patients with Turner syndrome (TS), while the pathogenesis of this remains unclear. Our epidemiological and prospective study aimed to investigate: a) the natural 2-yr course of liver disease in a selected cohort of young patients with TS, who had been preliminarily recruited on the basis of persistently elevated liver enzymes; b) the role of prolonged hormonal therapies in the etiology of liver dysfunction. From an overall population of 214 TS patients younger than 20 yr, only 19 (8.9%) were recruited, according to the following inclusion criteria: increased serum concentrations of one or more liver enzymes, exceeding the uppermost limit of the respective normal ranges, and persistence of these liver alterations for 6 months after the preliminary assessment. On the basis of the results of this prospective study, we can conclude that: a) the prevalence of liver abnormalities in girls and adolescents with TS is much lower and more strictly related to hormonal therapies than in TS adults; b) both autoimmunity and obesity are not frequently involved in the etiology of TS liver dysfunction; c) liver damage is either mild or moderate and its severity is not conditioned by karyotype; d) its course may be self-limiting; e) its natural history may be characterized in some cases by a slight deterioration of intrahepatic cholestasis, with no negative repercussions on liver synthetic function.


Assuntos
Hepatopatias/complicações , Hepatopatias/enzimologia , Síndrome de Turner/complicações , Síndrome de Turner/enzimologia , Adolescente , Adulto , Alanina Transaminase/sangue , Aspartato Aminotransferases/sangue , Índice de Massa Corporal , Criança , Pré-Escolar , Aberrações Cromossômicas , Estudos de Coortes , Etinilestradiol/uso terapêutico , Feminino , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Hepatopatias/genética , Estudos Longitudinais , Estudos Prospectivos , Síndrome de Turner/tratamento farmacológico , Síndrome de Turner/genética , gama-Glutamiltransferase/sangue
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