Idiopathic and mild subclinical hypothyroidism in childhood: clinical management.

Subclinical hypothyroidism (SH) is a common clinical problem in children and adolescents, for which there are many controversial issues regarding natural course and management. Aim of this review is to report on the state of the art regarding these controversial points of idiopathic SH in pediatric age. We included in our search only full-length articles on natural history and treatment of SH in children with no associated diseases or genetic syndromes, thus identifying only 13 papers that were suitable for our analysis. According to the results of these retrospective or longitudinal studies a persistently mild TSH elevation (between 5 and 10 mIU/L) in SH children with no underlying disease is unable to affect growth and bone maturation or body mass index (two studies) or cognitive function (one study). Moreover, the risk of a deterioration over time of thyroid function in the untreated cases with mild and idiophatic SH is only 12% (one study). Progression odds increase with increasing baseline TSH, with goiter presence and with positive anti-thyroid antibodies (two studies in children). Although no broad consensus exists on whether children with mild SH require L-T4 therapy, nevertheless, on the basis of the results of the majority of included studies, it can be concluded that L-T4 treatment is not indicated when TSH is repeatedly between 5 and 10 mIU/L and an underlying disease has been excluded. By contrast, treatment is suitable in the cases with TSH>10 mIU/L and/or an underlying disease.

Evans Syndrome: A case report.

We describe a case of a 14-years old caucasian female affected by autoimmune hemolytic anemia and thrombocytopenia successfully treated with intravenous immunoglobulin and steroids. Nevertheless, neutropenia occurred during follow-up period. Positivity of direct antiglobulin test and sieric anti-neutrophil antibodies suggested the diagnosis of Evans syndrome trilineage.

[Klinefelter syndrome: clinical and auxological features of 14 patients diagnosed in childhood]. / La sindrome di Klinefelter: aspetti anamnestici, clinici ed auxologici di una casistica diagnosticata in età pediatrica.

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

[A not very essential obesity: the Rohhad syndrome. Description of two cases and review of the literature]. / Un'obesità poco essenziale: la sindrome ROHHAD. Due casi clinici e review della letteratura.

UNLABELLED: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is a rare and complex pediatric disorder. Children typically show ROHHAD after the first years of life with rapid weight gain and subsequently autonomic nervous system dysregulation (altered pain perception, pupillary dysfunction, hypothermia and bradycardia); alveolar hypoventilation with risk of cardiorespiratory arrest and hypothalamic dysfunction (central diabetes insipidus, hypothyroidism, growth hormone and corticotrophin deficiency). Tumours of neural crest origin, such as ganglioneuroblastoma and ganglioneuronoma, are reported in 33% of the patients and may be found in the chest or abdomen. Here we describe two girls who presented with rapid weight gain, at the age of 5 and 9 years respectively. The first was admitted due to obesity and central hypothyroidism. After two months she rapidly developed a clinical picture characterized by thermal dysregulation, hypodipsia and severe hypernatriemia, hypertrigliceridemia, alveolar hypoventilation supported by mechanical ventilation. The second presented with rapid-onset obesity and a mild hyperprolactinemia. After three months of follow-up she was admitted due to a clinical picture of hypothermia, seizures and hyponatremia. Subsequentely she developed altered water balance (severe hypernatremia) and severe hypoventilation. Chest CT and MR imaging showed a posterior mediastinal mass. Endocrinological investigation showed corticotrophin deficiency and central hypothyroidism treated with specific replacement therapies. CONCLUSIONS: On the basis of our experiences we can infer that it is necessary perform specific further investigations of hypothalamic function in all the children with rapid onset obesity in order to early prevent the catastrophic consequences that may occur in this syndrome.

[Turner-like syndrome: a case report]. / Sembrava fosse una sindrome di Turner: descrizione di un caso clinico.

A prepubescent 11 year-old girl came to our attention for short stature. Auxological evaluation showed peculiar phenotype. In order to exclude Turner syndrome standard karyotype was performed with normal result. Because of anemia and selective deficiency of the erythroid lineage further investigations were performed and a diagnosis of Blackfan-Diamond anemia was made.

The birds, the bees, and the deep freeze: is there international consensus in the debate over assisted reproductive technologies?

This Comment traces assisted reproductive technologies from their historical beginnings in early artificial insemination techniques, through the revolutionary advent of in vitro fertilization two decades ago, and continues to current experimental procedures such as embryo twinning and cryopreservation of ova. It then examines the worldwide controversy surrounding clinical use of these technologies and international attempts to resolve these issues. The final focus is on whether or not a consensus exists within the international legal community on how to tackle the complex issues presented by recent advances in reproductive technology.