At the end of a two-year follow-up elevated TSH levels normalize or remain unchanged in most the children with subclinical hypothyroidism

Data about the natural evolution of subclinical hypothyroidism (SH) in pediatric age are very scanty. Moreover all the available reports in both aged and young patients were based on unselected study populations including also patients with either thyroid disorders or other pathological causes that are well known to be able to affect SH development and evolution. Aim of the study by Wasniewska et al was to prospectively evaluate for the first time the natural course of SH in children and adolescents with no underlying diseases and no risk factors that might interfere with the progression of SH. On the basis of the 2-year follow-up results, the Authors concluded that: a) the natural course of TSH values in a pediatric population with idiopathic SH is characterized by a progressive decrease over time; b) the majority of patients (88%) normalized or maintained unchanged their TSH; and c) TSH changes were not associated with changes of either FT4 values or clinical status or auxological parameters

The feasibility and efficacy of secondary neck dissections in thyroid cancer metastases

The purpose of the study was to assess the feasibility of secondary neck dissections (ND) in different types of thyroid cancer (TC), to evaluate the influence of ND extent on morbidity and to describe biochemical and clinical outcomes. 51 patients previously operated for TC (33-well differentiated TC-WDTC, 15 medullary TC-MTC, 3 poorly differentiated TC-PDTC) presenting detectable nodal disease. Reoperations covered I–VII neck levels. Radical neck dissection was performed in 22 patients, selective neck dissection in 29 patients. 14 central compartment (CC), 10 mediastinal and 41 level IV excisions were performed. Postoperative complications occurred in 13 patients: 4 chyle leaks, 3 massive bleedings, 8 permanent vocal cord pareses, hypoparathyroidism in 22 patients (43.1 %), 2 patients expired in perioperative period. In WDTC: in seven patients thyroglobulin level normalized directly after ND, in ten patients in the follow-up; six patients developed distant metastases. None of the patients with MTC achieved calcitonin level <10 pg/ml; nine patients developed distant metastases. None of the patients with PDTC achieved Tg <2 mg/ml; two patients died, the third developed distant metastases. Secondary ND in TC present a challenge by means of surgical approach and possibility of complications. In MTC and PDTC the long-term results were unsatisfactory. In WDTC, the secondary ND should be performed due to strong indications. Metastases localization in levels IV, VI, VII were connected with high complication rate, but these surgeries were crucial for satisfactory oncological outcomes

The challenging diagnosis of pituitary stalk interruptionsyndrome: a case report

Pituitary stalk interruption syndrome (PSIS) is a rare congenital abnormality affecting thehypothalamic pituitary complex. It is characterized by a peculiar radiological triad which includes thin or interruptedpituitary stalk, hypoplasia or aplasia of the adenohypophysis and absent or ectopic neurohypophysis seen on magnetic resonance imaging (MRI). Patients affected by PSIS may show a wide range of clinical manifestations depending on the variable involvement of pituitary specialized cells, ranging from isolated to multiple pituitary hormone deficiency.  The exact aetiology of PSIS is still uncertain, even if genetic causes arelikely to be involved in some cases, especially mutations in genes implicated in pituitary and neuronal development. Prognosis may vary according to several factors, the most relevant of which is diagnostical-timing, being strictly related to the start of hormonal replacement therapy.This report describes an emblematic PSIS case diagnosed in a 15-year-old girl with primary amenorrhoea and short stature. Her past medical history was not significant. Accurate diagnostic investigation including bone age examination, basal hormonal evaluation and growth hormone stimulation dynamic tests were performed, revealingcombined pituitary hormone deficiency (CPHD). MRI findings confirmed a picture of PSIS. The case highlights the importance of accurate history taking and careful monitoring of growth and pubertal development, which is crucial to avoid diagnostic delay and to allow promptly hormonal replacement therapy

A case of familial male-limited precocious puberty in a 4-year-old boy

Familial male-limited precocious puberty (FMPP), or testotoxicosis, is a rare cause of precocious puberty in males. It is caused by an activating mutation in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene. This causes excessive production of testosterone, with LH and FSH levels suppressed. Generally, boys present with signs of puberty, with age of onset between 2-5 years essentially with penis and testes growth, linear growth acceleration and progressive bone age advancement. Differential diagnosis is often a challenge with others causes of peripheral puberty. The goal of treatment is to decrease the effect of testosterone as well as reduce the conversion of testosterone to estrogen. The long-term aims are to prevent precocious virilization and to delay closure of the epiphyseal plates to maintain adult height potential. Little is known about the long-term effects of treatment because the disorder is so rare. However recent studies using bicalutamide and anastrozole have been promising. In this report, we present a boy with FMPP with a classic mutation in the LHCGR gene, who has been challenging to manage with off-label drugs

Central Precocious Puberty: Treatment with Triptorelin 11.25 mg

Background. Few data are available on quarterly 11.25 mg GnRH analog treatment in central precocious puberty (CPP). Aim. To assess the efficacy of triptorelin 11.25 mg in children with CPP. Patients. 17 patients (16 females) with CPP (7.9 ± 0.9 years) were treated with triptorelin 11.25 mg/90 days. Methods. Gonadotropins, basal-, and GnRH-stimulated peak, gonadal steroids, and pubertal signs were assessed at preinclusion and at inclusion visit, 3 months, 6 months, and 12 months of treatment. Results. At 3, 6, and 12 months, all patients had suppressed LH peak (<3 IU/L after GnRH stimulation), as well as prepubertal oestradiol levels. Mean LH peak values after GnRH test significantly decreased from 25.7 ± 16.5 IU/L at baseline to 0.9 ± 0.5 IU/L at M3 (P < 0.0001); they did not significantly changed at M6 and M12. Conclusions. Triptorelin 11.25 mg/90 days efficiently suppressed the pituitary-gonadal axis in children with CPP from first administration

epidemiological pathophysiological and clinical peculiarities of graves disease in children with down and turner syndrome a literature review

Aim: to describe the salient relationships between Graves' disease (GD) and both Turner syndrome (TS) and Down syndrome (DS). Design: to conduct a secondary analysis of current literature on this topic. Results: 1) the prevalences of GD in TS and in DS young patients are 1.7% and 6.5‰, respectively, i.e. higher than that in pediatric general population (around 1‰); 2) in both these chromosomopathies GD presentation is often preceded by Hashimoto's thyroiditis (HT) antecedents; 3) in both TS and DS, GD presents with a clinical picture very similar to that observed in GD patients without these chromosomopathies; 4) in TS, clinical course of GD under pharmacological therapy is very similar to that observed in non-TS girls; 5) in DS, clinical course of GD under pharmacological therapy is less severe than that in non-DS patients. Conclusions: in the children with either TS or DS, GD is characterized by two common epidemiological peculiarities, i.e. increased prevalence rate and elevated frequency of HT antecedents

In GH-treated girls with Turner syndrome height prognosis may sometimes exceed target height: a case report

A 5-years-old girl was diagnosed with Turner syndrome (TS) during a diagnostic work-up for short stature and dysmorphic features. Chromosome analysis revealed rare X-chromosomal abnormalities 46 Xt (13:X) (p12:q24). GH therapy was started at the age of 5.5 years, and continued for 7 years with a fixed dose of 0.33 mg/kg/week, until adult height (AH) achievement. Six-monthly assessment of height standard deviation score and height velocity was performed under therapy, evaluating a prepubertal height gain of 31.7 cm and pubertal height gain of 20 cm. She achieved an AH of 159.3 cm, better than her target height (156.8 cm). In addition, she underwent spontaneous puberty at the age of 9.6 years, completed with menarche at 11.6 years and followed by regular menstrual cycles.  During GH treatment, IGF-1, insulin and glucose blood levels remained within a normal range. The early onset of GH therapy may have allowed such a successful height outcome, with the achievement of full stature recovery during childhood and puberty in this TS case. The rare karyotype of our patient may also positively influenced her height final result

Peculiarities of presentation and evolution over time of Hashimoto's thyroiditis in children and adolescents with Down's syndrome

Studies concerning presentation and evolution over time of Hashimoto's thyroiditis (HT) in children with Down's syndrome (DS) are few, are based on limited study populations and do not include control HT groups without DS. The aim of this multicenter study was to shed further light on the relationships between DS and HT in childhood

Hashimoto’s thyroiditis, hypoparathyroidism and coeliac disease: lessons from a rare association

We present the case of a 36 years old woman, affected by euthyroid Hashimoto’s thyroiditis (HT) from the age of 20. She reported the following symptoms for three years: weight reduction, abdominal pain, alternate constipation and diarrhoea, tiredness, paresthesias and cramps. Biochemical evaluation revealed low iron levels (21 ug/dl, with microcytic anemia) and hypocalcemia (6.6 mg/dl), first attributed to coeliac disease (EMA IgG, AGA IgG-A and tTG IgA positivity; Marsh-Oberhuber 3a/3b type at duodenal biopsy). TSH, PTH and 25-OHD3 were in the normal range. Although the patient was on a gluten-free diet for the second year, cramps persisted and facial spasms and tetanic crises appeared. One year later she came to our attention with severe hypocalcemia (Ca 5.1 mg/dl, Ca++ 0.6 nmol/L) and low PTH (2.5 pg/ml). A diagnosis of primary hypoparathyroidism was made and conventional treatment was started. In the following months, symptomatic hypocalcemia persisted (6.7 mg/dl, Ca++ 0.7 nmol/L), despite the gradual increase of calcium and calcitriol supplements. Gastro-intestinal re-evaluation demonstrated gluten contamination, so as to hypothesize that the scarce dietary compliance had caused persistent malabsorption and had made the hypocalcemia difficult to manage. The observation of these three disorders coexisting in a single patient, never reported by the literature, warns us about the virtually unlimited possibilities of autoimmune disease clustering. Clinicians should be aware of the increased risk of developing additional AIDs in patients with one autoimmune disorder

Subclinical Hypothyroidism in Children: When a Replacement Hormonal Treatment Might Be Advisable

Aim of this mini review was to analyze the main variables which should be taken into account when the decision regarding a possible treatment with L-T4 has to be considered for a child with subclinical hypothyroidism (SH). The indications of periodical monitoring and vigilance have been also discussed. It was inferred that therapy should be recommended for children with underlying Hashimoto's thyroiditis and progressive deterioration of thyroid status over time, particularly in the cases with goiter and hypothyroid symptoms and in those with associated Turner syndrome or Down's syndrome and/or other autoimmune diseases. Treatment might also be recommended for children with proatherogenic metabolic abnormalities. Treatment is not advisable in children with idiopathic and mild SH, no goiter, no hypothyroid symptoms and negative anti-thyroid autoantibodies. In the absence of any therapeutic intervention, clinical status and thyroid function tests should be periodically monitored, in order to individuate the children who might benefit from treatment. It has been suggested that children with a persistent mild elevation of TSH, who are not treated with L-T4, should undergo biochemical monitoring of thyroid function and re-assessment of clinical status every 6 months. After 2 years with stable thyroid function tests, the interval between monitoring can be extended