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1.
Artigo em Inglês | MEDLINE | ID: mdl-36112066

RESUMO

Predominantly androgen secreting juvenile granulosa cell tumors (JGCT) are uncommon and few reports exist in the literature. We present a case of a JGCT which presented with signs of prepubertal hyperandrogenism and insulin resistance to highlight the possible interaction between hyperandrogenemia and hyperinsulinism. We conducted chart review of a rare androgen secreting JGCT accompanied by hyperinsulinemia in a prepubertal patient. A 4-year-old girl presented with acanthosis nigricans and hyperinsulinism mimicking the Hyperandrogenism Insulin Resistance and Acanthosis Nigricans (HAIR-AN) syndrome at an age much younger than is typical for this diagnosis. Laboratory studies revealed elevated insulin, inhibin A and B, and total testosterone. All laboratory results normalized after unilateral salpingo-oophorectomy. The final diagnosis was Stage IA JGCT. This case highlights the importance of including ovarian tumors in the differential diagnosis when considering causes of virilization and insulin resistance. Our case illustrates the potential relationship between excess testosterone secretion and hyperinsulinemia and strengthens evidence that hyperandrogenemia may promote hyperinsulinism in ovarian disease.

2.
Nat Genet ; 43(6): 527-9, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21552266

RESUMO

Using exome sequencing and a variant prioritization strategy that focuses on loss-of-function variants, we identified biallelic, loss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies. CEP57 is a centrosomal protein and is involved in nucleating and stabilizing microtubules. Our findings indicate that these and/or additional functions of CEP57 are crucial for maintaining correct chromosomal number during cell division.


Assuntos
Proteínas Associadas aos Microtúbulos/genética , Mutação , Proteínas Nucleares/genética , Aneuploidia , Transtornos Cromossômicos/genética , Humanos , Mosaicismo , Neoplasias/genética
3.
Int J Pediatr Endocrinol ; 2010: 493258, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-21197429

RESUMO

Lack of insulin results in a catabolic state in subjects with insulin-dependent diabetes mellitus which is reversed by insulin treatment. Amino acid supply, especially branched chain amino acids such as leucine, enhances protein synthesis in both animal and human studies. This small study was undertaken to assess the acute effect of supplemental leucine on protein metabolism in adolescents with type 1 diabetes. L-[1-(13)C] Leucine was used to assess whole-body protein metabolism in six adolescent females (16-18 yrs) with type 1 diabetes during consumption of a basal diet (containing 58 µmoles leucine/kg/h) and the basal diet with supplemental leucine (232 µmoles leucine/kg/h). Net leucine balance was significantly higher with supplemental leucine (56.33 ± 12.13 µmoles leucine/kg body weight/hr) than with the basal diet (-11.7 ± -5.91, P < .001) due to reduced protein degradation (49.54 ± 18.80 µmoles leucine/kg body weight/hr) compared to the basal diet (109 ± 13.05, P < .001).

4.
J Pediatr Endocrinol Metab ; 21(8): 763-9, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18825876

RESUMO

BACKGROUND: Growth parameters are a powerful screening tool in pediatric care. Accuracy assumes differing importance in different clinical settings. A small error is not clinically significant when height is obtained as a screening tool during annual well child visits. However, when assessing annual growth velocity using shorter interval visits, an error of equal magnitude might influence further management decisions. AIM AND HYPOTHESIS: To explore the effect of inspiration or expiration on height measurement. Our hypothesis was that height measurements obtained in inspiration would be greater than those obtained in expiration or without specific instructions as to status of respiration (unspecified). METHODS: Heights of 99 individuals 8 years and older were measured in inspiration, expiration and unspecified respiratory status by two pediatric endocrinologists. Patients were measured three times in each mode. The p values were adjusted by Tukey procedure for multiple comparisons among three modes. RESULTS: Height measurement performed in inspiration, expiration or without specific instruction as to breathing (unspecified) did affect height measurement. Mean difference +/- SEM (95% CI) between height obtained in inspiration and expiration was 0.22 +/- 0.03 cm (95% CI: 0.15, 0.29); between inspiration and unspecified 0.31 +/- 0.04 cm (95% CI: 0.22, 0.40); and between expiration and unspecified 0.092 +/- 0.03 cm (95% CI: 0.03, 0.16). CONCLUSIONS: Based on these results, we recommend multiple height measurements using uniform technique including inspiratory/expiratory status, especially when calculating 'annualized' height velocity over short intervals.


Assuntos
Estatura , Expiração/fisiologia , Inalação/fisiologia , Projetos de Pesquisa , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes
5.
BMC Endocr Disord ; 7: 2, 2007 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-17407570

RESUMO

BACKGROUND: Clinical determination of mid-parental height is an important part of the assessment of a child's growth, however our clinical impression has been that parents cannot be relied upon to accurately report their own heights. Therefore, we conducted this study to assess the accuracy of parental height self-reporting and its effect on calculated mid-parental target height for children presenting to a pediatric endocrinology office. METHODS: All parents bringing their children for an initial evaluation to a pediatric endocrinology clinic over a period of nine months were questioned and then measured by a pediatric endocrinologist. Parents were blinded to the study. Mid-parental target heights, based on reported and actual height were compared. RESULTS: There were 241 families: 98 fathers and 217 mothers in our study. Mean measured paternal height was 173.2 cm, self reported 174.9 cm (p < 0.0001), partner reported 177 cm (p = 0.0004). Only 50% of fathers and 58% of mothers reported their height within +/- 2 cm of their measured height, while 15% of fathers and 12% of mothers were inaccurate by more than 4 cm. Mean measured maternal height was 160.6 cm, self-reported 161.1 cm (NS), partner reported 161.7 cm (NS). Inaccuracy of height self-report had a small but significant effect on the mean MPTH (0.4 cm, p = 0.045). Analysis showed that only 70% of MPTH calculated by reported heights fell within +/- 2 cm of MPTH calculated using measured heights, 24% being in +/- 2-4 cm range, and 6% were inaccurate by more than 4 cm. CONCLUSION: There is a significant difference in paternal measured versus reported heights with an overall trend for fathers to overestimate their own height. A large subset of parents makes a substantial error in their height self-report, which leads to erroneous MPTH. Inaccuracy is even greater when one parent reports the other parent's height. When a child's growth is in question, measured rather than reported parental heights should be obtained.

6.
Am J Med Genet A ; 143A(6): 594-8, 2007 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-17318848

RESUMO

X-linked hydrocephalus with aqueductal stenosis (HSAS) is caused by mutation or deletion of the L1 cell adhesion molecule gene (L1CAM) at Xq28. Central diabetes insipidus (CDI) can arise as a consequence of resultant hypothalamic dysfunction from hydrocephalus and must be distinguished from nephrogenic diabetes insipidus (NDI) by exogenous vasopressin response. Causes of NDI are heterogeneous and include mutation or deletion of the arginine vasopressin receptor 2 gene (AVPR2), which is located approximately 29 kb telomeric to L1CAM. We identified a patient with both HSAS and NDI where DNA sequencing failure suggested the possibility of a contiguous gene deletion. A 32.7 kb deletion mapping from L1CAM intron1 to AVPR2 exon2 was confirmed. A 90 bp junctional insertion fragment sharing short direct repeat homology with flanking sequences was identified. To our knowledge this is the first reported case of an Xq28 microdeletion involving both L1CAM and AVPR2, defining a new contiguous gene syndrome comprised of HSAS and NDI. Contiguous gene deletion should be considered as a mechanism for all patients presenting with hydrocephalus and NDI.


Assuntos
Anormalidades Múltiplas/genética , Diabetes Insípido Nefrogênico/patologia , Deleção de Genes , Hidrocefalia/patologia , Molécula L1 de Adesão de Célula Nervosa/genética , Receptores de Vasopressinas/genética , Anormalidades Múltiplas/patologia , Sequência de Bases , Cromossomos Humanos X , Análise Mutacional de DNA , Evolução Fatal , Ligação Genética , Humanos , Lactente , Masculino , Dados de Sequência Molecular , Mutagênese Insercional , Síndrome
7.
J Pediatr Endocrinol Metab ; 19(7): 919-25, 2006 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-16995572

RESUMO

Traditional methods for treating central diabetes insipidus during infancy, such as fluid therapy or the use of intranasal hormone replacement, have significant potential limitations. In a retrospective study of infants with diabetes insipidus, we examined outcome using subcutaneous (sc) DDAVP, and compared this to infants treated with intranasal lysine vasopressin or DDAVP. After in-patient dosage titration, outpatients' serum sodium concentrations were maintained in a narrower range in the sc group compared with the intranasal group, and the percentage of serum sodium concentrations within the normal range was greater in the sc group. There were no significant complications in either group. We conclude that DDAVP administered subcutaneously can be a safe and effective alternative to traditionally recommended treatments of central diabetes insipidus during infancy.


Assuntos
Antidiuréticos/administração & dosagem , Desamino Arginina Vasopressina/administração & dosagem , Diabetes Insípido Neurogênico/tratamento farmacológico , Lipressina/administração & dosagem , Administração Intranasal , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Injeções Subcutâneas , Masculino , Estudos Retrospectivos
8.
BMC Endocr Disord ; 6: 2, 2006 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-16549027

RESUMO

BACKGROUND: Although thyroxin therapy clearly is beneficial to children with frank hypothyroidism there is little data on the effects of thyroxin in children with compensated or subclinical hypothyroidism. The objective of this study was to determine the effect of thyroxin therapy on cognitive function in children with compensated hypothyroidism. The hypothesis was that thyroxin therapy would change neuropsychological function. METHODS: Eleven patients with a history of sub clinical hypothyroidism entered the study. At the start of the study, six out of the 11 were on thyroxin therapy, while 5 were off therapy. All patients underwent a battery of neuropsychological testing and thyroid function tests at the start of study. Based on the results of thyroid function tests, two of the 5 patients who were off thyroxin were started back on thyroxin. All of the 6 patients who were on thyroxin were taken off thyroxin. All patients then underwent repeat neuropsychological testing and thyroid functions after an average of 91 days. RESULTS: Thyroxin therapy could not be shown to have an effect on neuropsychological function in this short term study. Our patients had attention problems as compared to the normal population. No significant differences were found between our subjects and normal population standards in verbal processing, visual processing, motor speed/coordination and achievement. CONCLUSION: In this small, short term study, thyroxin therapy could not be shown to affect neuropsychological function in children with compensated hypothyroidism. These children may have attention problems but appear to have normal verbal and visual processing, motor speed/coordination and achievement.

9.
J Pediatr Endocrinol Metab ; 17(12): 1679-82, 2004 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-15645704

RESUMO

Thyrotoxic hypokalemic periodic paralysis (THypoKPP) is an uncommon disorder with an unknown etiology. We describe a family in which the proband presented with paralysis and thyrotoxicosis. Because of similarities between familial hypokalemic periodic paralysis (FHypoKPP) and THypoKPP, we sequenced exon 12 of the SCN4A gene, which is known to be mutated in FHypoKPP. We identified an Arg672Ser mutation in the proband and his affected father, as well as the proband's brother. As the brother has paralysis without thyrotoxicosis, our finding suggests that the genetic spectrum of FHypoKPP and THypoKPP overlap. We speculate that thyroid hormone may exert a threshold or permissive effect in hypokalemic periodic paralysis. Non-thyrotoxic family members of individuals with THypoKPP may have an unrecognized risk for paralysis.


Assuntos
Mutação , Paralisia/genética , Canais de Sódio/genética , Crise Tireóidea/genética , Adolescente , Sequência de Bases , Primers do DNA , Feminino , Humanos , Masculino , Canal de Sódio Disparado por Voltagem NAV1.4 , Paralisia/complicações , Linhagem , Reação em Cadeia da Polimerase , Crise Tireóidea/complicações
11.
Am J Med Genet ; 110(3): 273-7, 2002 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-12116237

RESUMO

We describe a 12-year-old boy with mosaic variegated aneuploidy (MVA), subnormal response to growth hormone (GH) stimulation testing, and short stature. In addition to features more commonly described in MVA such as microcephaly, cognitive deficits, and certain facial features, he also has features not commonly reported in MVA, including short limb segments, epidermoid cysts, ventricular septal defect, and subaortic stenosis. Chromosomal analysis revealed hyperdiploid chromosome numbers ranging from 47 to 70; modal number 50, in 24% of the metaphases. This case demonstrates that although the phenotype of MVA almost always includes growth failure, microcephaly, and mental retardation, additional features may vary greatly across individuals. His clinical features and course suggest that in addition to GH deficiency, he may have an intrinsic inability of the growth plate to respond to growth hormone.


Assuntos
Anormalidades Múltiplas/genética , Aneuploidia , Cardiopatias Congênitas/patologia , Hormônio do Crescimento Humano/deficiência , Anormalidades Múltiplas/patologia , Criança , Feminino , Transtornos do Crescimento/patologia , Humanos , Masculino , Microcefalia/patologia , Mosaicismo
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