RESUMO
INTRODUCTION: Paediatric hypoglycaemia is a relatively common medical emergency. To allow identification of the underlying cause, investigations need to be performed urgently prior to treatment being given. Careful consideration is needed to ensure correct patient selection, as inadequate investigations have further cost and patient safety implications. METHODS: 49 cases of proven or suspected hypoglycaemia (glucose ≤2.6â mmol/L) were identified via the laboratory. Clinical notes, laboratory investigations and results were reviewed. RESULTS: Only 41% of patients (15 neonates, 5 children) required investigation with a 'Hyposcreen'. Of these 20 patients, 3 had no investigations performed. In the remaining patients the cause for hypoglycaemia was identifiable, but 6 had investigations regardless. In total 23 patients had 'Hyposcreen' but only 2 were complete. Intermediary metabolites (96%), lactate (100%), cortisol (100%), insulin (83%) and growth hormone (87%) were taken most commonly with urine samples (52%) and ammonia (30%) taken least often. 40% cortisol, 29% insulin and 56% intermediary metabolite results were abnormal affecting 10 patients, but only 5 had follow-up. A total of £6977 was spent on investigations, of which £1630 has subsequently been found to be unnecessary. If investigations in the 23 children had been complete, this would have totalled £2700 of unnecessary expenditure. CONCLUSIONS: Investigations for hypoglycaemia are generally incomplete (91%) or inappropriate (21%). This has major cost implications for both the National Health Service and the individual who is investigated inadequately or incorrectly. We need national evidence-based guidance for investigation thresholds and normal ranges to help avoid inappropriate investigations and delay in diagnosis.
Assuntos
Hipoglicemia/diagnóstico , Hipoglicemia/etiologia , Adolescente , Criança , Pré-Escolar , Diagnóstico Diferencial , Inglaterra/epidemiologia , Feminino , Humanos , Hipoglicemia/epidemiologia , Lactente , Recém-Nascido , MasculinoRESUMO
STUDY OBJECTIVE: Puberty is a normal process for adolescents, and the first signs may include change in body odor, breast development, or pubic hair growth. This is then followed by menarche approximately 2 years later. Vaginal bleeding in pre-pubertal female individuals is rare. The aim of this study was to investigate causes of pre-pubertal bleeding in a group of patients. DESIGN, SETTING, METHOD, AND MAIN OUTCOME MEASURES: Seventeen patients who presented with pre-pubertal recurrent vaginal bleeding with no other signs of precocious puberty were investigated, to determine the cause of this symptom. RESULTS: The mean age for the onset of vaginal bleeding was 7.4 years, ranging from 4 to 9.67 years. Gonadotrophin-releasing hormone (GnRH) stimulation tests showed a pre-pubertal response in all cases. Pelvic ultrasound scans showed a pre-pubertal uterus in all patients. Two patients were found to have foreign bodies identified during a genital examination under anesthetic, and in both cases removal of the foreign bodies terminated the vaginal bleeding. CONCLUSION: In conclusion, recurrent vaginal bleeding was not associated with GnRH response, raised estradiol levels, or abnormal pelvic ultrasound findings. In cases of recurrent vaginal bleeding with normal hormonal investigations in pre-pubertal girls, it is recommended that a genital examination under anesthetic be undertaken to rule out undiagnosed causes of the presenting symptom.
Assuntos
Puberdade Precoce/etiologia , Hemorragia Uterina/etiologia , Criança , Pré-Escolar , Feminino , Hormônio Liberador de Gonadotropina/análise , Exame Ginecológico/métodos , Humanos , Puberdade/fisiologia , Ultrassonografia , Hemorragia Uterina/diagnósticoRESUMO
Congenital hyperinsulinism is a rare but significant cause of severe and persistent hypoglycaemia in infancy. Although a biphasic phenotype of congenital hyperinsulinism in infancy followed by Maturity-Onset Diabetes of the Young (MODY) in later life has been established for HNF4A, the existence of a similar phenotype for a related MODY gene, HNF1A, is less clear. We describe two cases of congenital hyperinsulinism in association with dominantly inherited variants in HNF1A. They presented in the early neonatal period with unequivocal biochemical evidence of congenital hyperinsulinism and persistence into childhood with ongoing need for medical therapy. Both cases inherited HNF1A variants from a parent with a diabetes phenotype consistent with MODY, without obesity, insulin resistance or other metabolic syndrome features. In the first case, a paternally inherited novel c.-230_-101del variant was found that deletes the minimal promoter region presumably required for HNF1A expression. In the second case, a maternally inherited missense variant (c.713G>T, p.(Arg238Met)) was identified. This variant is predicted to cause haploinsufficiency via aberrant splicing and has previously been associated with MODY but not congenital hyperinsulinism. Our cases further strengthen the evidence for HNF1A as a CHI-causing gene requiring long-term follow-up.
Assuntos
Hiperinsulinismo Congênito/genética , Fator 1-alfa Nuclear de Hepatócito/genética , Criança , Pré-Escolar , Hiperinsulinismo Congênito/patologia , Feminino , Humanos , Mutação INDEL , Masculino , Mutação de Sentido Incorreto , LinhagemRESUMO
A 15-year-old non-diabetic Caucasian girl presented with sudden onset of seizures, unrecordable blood glucose readings and acute renal failure. She denied any medication ingestion and no other precipitating factors were encountered for this acute presentation. She was treated with intravenous glucose infusion and hydrocortisone injection. Investigations showed a non-ketotic hypoglycaemia with high C-peptide and insulin levels. It took several days and multiple investigations to establish the exact cause of her persistent hypoglycaemia before it was concluded to be secondary to gliclazide overdose in a suicide attempt by the young girl. She made a complete recovery in a week with no apparent lasting neurological or renal impairment.
Assuntos
Gliclazida/intoxicação , Hipoglicemia/induzido quimicamente , Hipoglicemiantes/intoxicação , Convulsões/induzido quimicamente , Convulsões/diagnóstico , Adolescente , Glicemia/análise , Diagnóstico Diferencial , Overdose de Drogas/urina , Serviço Hospitalar de Emergência , Feminino , Gliclazida/administração & dosagem , Gliclazida/urina , Glucose/administração & dosagem , Glucose/uso terapêutico , Humanos , Hidrocortisona/administração & dosagem , Hidrocortisona/uso terapêutico , Hipoglicemia/complicações , Hipoglicemia/tratamento farmacológico , Hipoglicemiantes/administração & dosagem , Infusões Intravenosas , Insulina/sangue , Convulsões/complicações , Tentativa de Suicídio/psicologia , Resultado do TratamentoRESUMO
BACKGROUND: Congenital adrenal hyperplasia (CAH) in children varies in presentation and progression with several challenges in optimal management. Effective treatment is to achieve normal growth and development while avoiding adrenal crisis and hyperandrogenisation. AIM: Our aim was to ascertain the current practice in the UK on CAH management in children in comparison with the recommendations made by the Endocrine Society. METHODS: An online survey was emailed to the British Society of Paediatric Endocrinology (BSPED) members requesting a response from each centre regarding CAH management. RESULTS: The survey was completed by 35 out of 92 centres (38% response rate). Tertiary centres constituted 22/35, while 8/35 were district general hospitals providing tertiary services. Treatment varied among centres with 25/35 using 10-15 mg/m2/day of hydrocortisone and 21/35 of centres using 50-150 µg/day of fludrocortisone. The frequency of clinical reviews was contentious and varied depending on the child's age and clinical status. Reviews were done 3-4 monthly in 68% and 6 monthly in 31% of centres. The frequency of investigations including 17-hydroxyprogesterone (66% 3-6 monthly; 34% yearly), testosterone/dehydroepiandrosterone sulphate (37% 6 monthly; 51% yearly), renin/aldosterone (31% 6 monthly; 69% yearly) and bone age (83% yearly, 6% 2 yearly) varied significantly among centres. Genetic counselling was provided at diagnosis in 69% of the centres while surgical (66%) and psychology (80%) input were provided on an as required basis. CONCLUSION: Our survey highlights the diversity in managing children with CAH in the UK as compared with the recommendations of the Endocrine Society. It also demonstrates inconsistent involvement of essential specialist services, which are essential for optimal management of this condition.
Assuntos
Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Fludrocortisona/uso terapêutico , Glucocorticoides/uso terapêutico , Hidrocortisona/uso terapêutico , Padrões de Prática Médica , Hiperplasia Suprarrenal Congênita/epidemiologia , Anti-Inflamatórios/uso terapêutico , Criança , Feminino , Humanos , Masculino , Inquéritos e Questionários , Reino Unido/epidemiologiaRESUMO
BACKGROUND: Debate exists regarding the optimal treatment strategy for paediatric Graves' disease with radioiodine (RAI), and surgery, usually reserved for failure of medical therapy. We present our own experience to introduce a review of the published literature focussing on the predictors of remission after antithyroid drug (ATD) therapy from diagnosis, and discuss whether RAI should be considered as a first-line therapy. METHOD: A retrospective analysis of all diagnosed cases of paediatric Graves' disease presenting to a large District General Hospital. RESULTS: Thirteen patients were diagnosed with Graves' disease between February 2004 and May 2013. The median age at diagnosis was 13.7 years (range 7.2-17.1 years) with a female:male ratio of 11:2. Some nine patients completed a 2-year course of carbimazole out of which 8 relapsed after a mean duration of 0.82 years (range 0.08-1.42 years); the ninth currently remains in remission. Of the eight patients who relapsed, three have undergone RAI treatment. Two patients failed to tolerate carbimazole treatment, one of whom received RAI treatment because surgery was contraindicated and one patient with severe autism proceeded to RAI treatment due to poor compliance and persistent hyperthyroidism. LITERATURE REVIEW: Prognostic factors at presentation predicting a low likelihood of remission following ATD treatment include younger age, non-Caucasian ethnicity, and severe clinical and/or biochemical markers of hyperthyroidism. Psycho-social factors including compliance also influence management decisions. CONCLUSION: In specifically selected patients presenting with paediatric Graves' disease, the benefits and risks of radioactive iodine as a potential first-line therapy should be communicated allowing families to make informed decisions.
Assuntos
Doença de Graves/radioterapia , Radioisótopos do Iodo/uso terapêutico , Adolescente , Antitireóideos/uso terapêutico , Carbimazol/uso terapêutico , Criança , Feminino , Seguimentos , Doença de Graves/tratamento farmacológico , Doença de Graves/patologia , Humanos , Masculino , Prognóstico , Estudos RetrospectivosRESUMO
A 6-month-old girl was referred with breast and pubic hair development. Investigations excluded an adrenal or central cause for her precocity. Ovarian ultrasound scans showed bilaterally enlarged ovaries with both solid and cystic changes. A follow-up examination suggested progression of the precocity and in view of the young age of the child, and concerns regarding underlying malignancy, she underwent laparotomy. Histology showed no evidence of neoplasia but there was stromal oedema consistent with a diagnosis of massive ovarian oedema. This entity is poorly recognised in the paediatric literature as a cause of sexual precocity, and has never previously been described in such a young patient. This is an unusual cause of precocity in a young child and its recognition and management are reviewed.
Assuntos
Edema/complicações , Doenças Ovarianas/complicações , Puberdade Precoce/etiologia , Edema/diagnóstico por imagem , Edema/cirurgia , Feminino , Humanos , Lactente , Laparotomia , Doenças Ovarianas/diagnóstico por imagem , Doenças Ovarianas/cirurgia , Ovariectomia , Puberdade Precoce/patologia , Puberdade Precoce/cirurgia , Anormalidade Torcional , Resultado do Tratamento , UltrassonografiaRESUMO
Hyperinsulinism in infancy (HI) is a condition of neonates and early childhood. For many years the pathophysiology of this potentially lethal disorder was unknown. Advances in the genetics, histopathology and molecular physiology of this disease have now provided insights into the causes of beta-cell dysfunction and revealed levels of diversity far in excess of our previous knowledge. These include defects in ion channel subunit genes and mutations in several enzymes associated with beta-cell metabolism and anaplerosis. In most cases, beta-cell pathophysiology leads to an alteration in the function of ATP-sensitive K(+) channels. This can manifest as 'channelopathies' of K(ATP) channels through gene defects in ABCC8 and KCNJ11 (Ch.11p15); or as a result of 'metabolopathies' through defects in the genes encoding glucokinase (GCK, Ch.7p15-p13), glutamate dehydrogenase (GLUD1, Ch.10q23.3) and short-chain L-3-hydroxyacyl-CoA dehydrogenase (HADHSC, Ch.4q22-q26). This review focuses upon the relationship between the causes of HI and therapeutic options.