Gerdi Tuli

Sperm count of young men surgically treated for cryptorchidism in the first and second year of life: fertility is better in children treated at a younger age.

INTRODUCTION Recent data has indicated the usefulness of performing orchiopexy in the first years of life. In this study, we evaluated testicular function in young men operated on for cryptorchidism in the first year of life. To our knowledge, this is the first report on the effects of such an early treatment. MATERIALS AND METHODS Testicular function was assessed in a group of young men operated for cryptorchidism during the first year of life (Group A, n=13) and during the second year of life (Group B, n=16). RESULTS Total sperm counts were clearly higher in Group A (52.3+/-14.3 million/ml vs. 30.4+/-23.5 million/ml, p=0.005) as was sperm motility (36.2+/-8.7 vs. 23.1+/-15.7%, p=0.009). A clear inverse relationship was found between age at orchiopexy and total sperm count (r=-0.394, p=0.034) and sperm motility (r=-0.382, p=0.041). The relationship between volume of testes, position at surgery, uni/bilaterality of cryptorchidism, evidence of Ad spermatogonia at biopsy performed during surgery and treatment with LHRH and hCG performed before surgery and fertility was not significant. The latter findings may be partially explained by the low number of patients participating in the study and need further investigation. CONCLUSIONS We obtained, for the first time, results showing the benefit of treating cryptorchidism during the first year of life rather than in the second year or even later.

Phalangeal quantitative ultrasound in 1,719 children and adolescents with bone disorders

SummaryWe measured bone properties by phalangeal quantitative ultrasound in 1,719 pediatric patients with bone disorders, classifying them according to fracture status. Quantitative ultrasound discriminated fractured and nonfractured pediatric patients and enabled us to stratify fractured patients into classes according to the severity of the causative trauma (spontaneous, minimal trauma, appropriate trauma fractures).IntroductionThe correlation between quantitative bone measurements and fractures is poorly established in pediatric patients with bone disorders. We correlated phalangeal quantitative ultrasound (QUS) and fracture history in children and adolescents with bone disorders and evaluated the ability of QUS to recognize fractured patients.MethodsAmplitude-dependent speed of sound (AD-SoS) and bone transmission time (BTT) were measured in 1,719 pediatric patients with bone disorders and related to fracture history. The patients were classified as (1) spontaneously (77), (2) minimal trauma (101), or (3) appropriate trauma fractured (206), and (4) nonfractured (1,335). The likelihood of fracture according to QUS was calculated as odds ratio per SD decrease (OR/SD), and the effectiveness in discriminating fractured patients was evaluated by receiver operating characteristic (ROC) analysis. The influence of age, sex, puberty, height, and BMI was explored by respective adjustments and multiple logistic regression.ResultsFractured patients showed significantly reduced AD-SoS and BTT standard deviation score (−0.32 ± 1.54 and −0.78 ± 1.49) compared to nonfractured subjects (0.43 ± 1.63 and −0.11 ± 1.34). QUS measurements paralleled the causative trauma severity, ranging from the lowest values in spontaneously fractured patients to normal values in appropriate trauma fractured subjects. The OR/SD were increasingly higher in appropriate trauma fractured, minimal trauma fractured, and spontaneously fractured patients. At ROC analysis, both parameters proved to have significant discrimination power in recognizing spontaneously and minimal trauma-fractured patients.ConclusionsQUS identifies fractured pediatric patients with bone disorders, reflecting the severity of the causative trauma with a high discrimination power for fragility fractures.

Teriparatide (rhPTH) treatment in children with syndromic hypoparathyroidism.

Abstract Background: Subcutaneous recombinant human parathormone [rhPTH (1–34)] has been introduced for hypoparathyroidism treatment, allowing avoidance of vitamin D and calcium side effects. Objective: Our objective was to evaluate rhPTH (1–34) safety and efficacy in pediatric patients with genetically proved syndromic hypoparathyroidism. Methods: The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8±5.1 years) with syndromic hypoparathyroidism including three with autoimmune polyendocrinopathy candidiasis ectodermal dysplasia (APECED) syndrome, two with DiGeorge syndrome, and one with hypoparathyroidism-deafness-renal dysplasia syndrome. We compared patients’ clinical and biochemical outcome of conventional treatment based on oral administration of calcium (1–1.5 g/day in three doses) plus oral calcitriol (6.5–33 ng/kg per day in two to three doses) with the outcome obtained with rhPTH (1–34) (teriparatide, 12.5 μg bid). Therapy shift was conducted introducing rhPTH (1–34) while progressively withdrawing calcium and vitamin D. Blood calcium, phosphorus, alkaline phosphatase, and urinary calcium-to-creatinine ratio (mg/mg) before and during rhPTH therapy were compared. Results: rhPTH treatment allowed complete calcium and vitamin D withdrawal in two patients, calcium withdrawal in three and reduction of vitamin D dose in two. During rhPTH (1–34), mean blood calcium, phosphorus, and alkaline phosphatase were not significantly modified, whereas significant reduction of the calciuria-to-creatininuria ratio (0.55±0.31 vs. 0.1±0.1, p=0.02) was obtained. The number of tetanic episodes was reduced in four patients during teriparatide treatment compared to conventional treatment. Conclusion: In children with syndromic hypoparathyroidism, substitutive treatment with rhPTH (1–34) maintains adequate blood calcium levels and allows prompt normalization of urinary calcium excretion, through direct action on the kidney and through calcium and vitamin D therapy layoff.

Thyroid Involvement in Two Patients with Bannayan-Riley-Ruvalcaba Syndrome

Bannayan-Riley-Ruvalcaba syndrome (BRRs) is an overgrowth disorder characterized by macrocephaly, pigmented maculae of the glans penis, and benign mesodermal hamartomas (primarily subcutaneous and visceral lipomas, multiple hemangiomas, and intestinal polyps). Dysmorphic features as well as delayed neuropsychomotor development can also be present. These patients have also a higher risk of developing tumors, as the gene involved in BRRs is phosphatase and tensin homologue (PTEN), and up to 30% of the patients have thyroid involvement consistent with multinodular goiter, thyroid adenoma, differentiated non-medullary thyroid cancer, or Hashimoto’s thyroiditis. Here, we report two cases of BRRs at opposite ends of its phenotypic spectrum: clinical manifestations of the first patient were more severe, while the second one showed only few signs and had no family history of the disease. Both cases developed thyroid disorders detected by thyroid ultrasound screening. We believe that it is important for clinicians, specifically pediatric endocrinologists, to know that this syndrome can appear in very subtle ways and also to be aware that thyroid nodules and intestinal polyps seem to be its most frequently encountered features. Conflict of interest:None declared.

Bone quantitative ultrasound in congenital and acquired childhood multiple pituitary failure.

The aim of the present study is to investigate bone status by phalangeal quantitative ultrasound (QUS) in a cohort of hypopituitaric pediatric subjects, and to relate measurement outcome to their clinical, laboratory, and therapeutical features. Forty-three hypopituitaric children were submitted to bone measurement by QUS with DBM sonic bone profiler 1200 (IGEA, Carpi, Modena, Italy). This method measures bone transmission time (BTT) and amplitude-dependent speed of sound (AD-SoS) of an ultrasound beam crossing the first four phalanges of the hand and provides respective standard deviation scores (SDS). These two parameters provide information on bone mineral density and structure. Clinical, laboratory and therapeutical features were considered to look for correlations. Overall BTT and AD-SoS SDS were significantly reduced (-0.87 +/- 1.52, p = 0.001, and -0.97 +/- 1.56, p = 0.001) as well as respective height- or bone age-corrected SDS. Bone condition proved significantly worse in subjects with higher number of hormonal deficiencies (p = 0.001 for both parameters) and in those with acquired hypopituitarism (p = 0.020 for BTT and p = 0.010 for AD-SoS) than in those with congenital forms. In participants under growth hormone (GH) treatment, regression analysis revealed that QUS measurement outcome was significantly associated with age at GH therapy start (p = 0.001), time interval before therapy initiation (p = 0.011), treatment duration (p = 0.007) and administered dosage (p = 0.036). Our data show that childhood hypopituitarism is associated with bone morbidity, detectable at QUS measurement independently of potential confounders as stature and bone age. Skeletal impairment is related to acquired hypopituitarism, number of hormonal deficiencies and duration of disease before replacement therapies, whereas GH treatment duration and doses are associated with a better skeletal condition. Phalangeal QUS measurements of BTT and AD-SoS promise as a reliable method for obtaining quantitative measurements of bone disease in individuals with hypopituitarism but more studies are needed for verification.

Cushing syndrome due to ectopic adrenocorticotropic hormone secretion in a 3-year-old child

Abstract Ectopic adrenocorticotrophic hormone (ACTH) secretion is a rare cause of Cushing syndrome in paediatric age, due to tumours arising from different tissues. To date, only 11 reports of ACTH-secreting pancreatic tumours in children and adolescents exist in the literature. We present a paediatric case of Cushing syndrome caused by ectopic ACTH secretion. This was caused by a large acinar cell carcinoma that developed in the pancreas of a 3-year-old girl.

Copeptin role in polyuria-polydipsia syndrome differential diagnosis and reference range in paediatric age

Plasma arginine‐vasopressin (AVP) analysis can help in the differential diagnosis of the polyuria‐polydipsia syndrome (PPS), even if such investigation is hampered by technical difficulties, conversely to its surrogate copeptin. This study aims to enlarge the existing data on normal copeptin levels in childhood, to evaluate the correlation between copeptin, serum sodium and plasma and urine osmolality, and to assess the utility of the copeptin analysis in the diagnostic work‐up of PPS in the paediatric age.

Management of sodium metabolism derangements in children treated for hypothalamic-hypophyseal tumors

Hyponatremia and hypernatremia, common electrolyte abnormalities in children hospitalized for intracranial disea ses, are life-threatening events. Diagnosis and adequate treat ment of hypo- and hypernatremia are mandatory to prevent neurological sequelae. We report ante-and post-hypophyseal dysfunctions, disabilities and acute sodium metabolism derangements in 16 children affected by hypothalamic-hypophyseal tumors treated by neurosurgery and/or chemotherapy during a long-lasting follow-up. We compare acute hypo- and hypernatremic episodes during surgery between these patients, treated with a specific hormonal and infusive protocol (protocol A), and a previous cohort of patients, affected by similar tumors, treated wit h a previously published protocol (protocol B). All patients s howed multiple or isolated pituitary dysfunctions and disabilities before chemotherapy and/or surgical treatment that worsened during the follow-up period. We found a statistical significant d ecrease of hyponatremic intra-operative acute events in children tre ated with protocol A. Sodium metabolism derangements complicating the course of hypothalamic-hypophyseal tumors can be partially prevented with specific per-operative protocols. Aim of th is study is to present a new sodium metabolism derangements management in children treated for hypothalamic-hypophyseal tumors and to compare this with a previous one.