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C De Sanctis

Publications and source records attributed to C De Sanctis.

At least 19 recordsLinked to original sources
PubMed2003

Final height in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the Italian experience.

OBJECTIVE: To investigate the influence of target height (TH), gender, phenotype, glucocorticoid formulation and age at onset of treatment on final height (FH) in patients with 21-hydroxylase deficiency (21OHD). PATIENTS: Clinical data of 93 patients--46 simple virilizing (SV), 35 salt-wasting (SW) and 12 late onset (LO)--were collected in six pediatric endocrinology units in Italy. RESULTS: FH and TH were always below the mean height of the general population (mean FH, SDS: SW patients -1.3 +/- 1.2, SV patients -1.8 +/- 0.9, LO patients -1.7 +/- 1.1; mean TH, SDS: SW patients -0.6 +/- 0.8, SV patients -0.7 +/- 0.9, LO patients -1.4 +/- 1.3). FH was significantly below TH in patients with classic form (SW and SV, p <0.001), but not in LO patients. In classic form, TH seems to be related to FH, followed by age at onset of therapy and by steroid formulation, these variables explaining 30% of FH variance. CONCLUSIONS: In the classic form, substitutive therapy started before 21 months of age improved the long-term outcome. Lower TH in LO patients could be due to undiagnosed non-classic 21OHD in some of their parents. FH in LO patients seems not to benefit from corticosteroid therapy, even if late diagnosis may partly account for this result.

Adrenal Hyperplasia, Congenital↗
PubMed2002

[Translaryngeal tracheostomy using the Fantoni technique: report of 104 cases].

OBJECTIVE: Surgical tracheostomy morbidity led the authors to investigate new election techniques. The aim of this retrospective study was to assess the translaryngeal tracheostomy (TLT), complications and cost. METHODS: From January 1998 to January 2001, 104 patients were treated with TLT modified: 69 males (66.3%) and 35 females (33.7%), average age 52.6 +/- 9.5 years. The original pathologies were: traumatical (36), neurological (37), surgical (9), heart (4), respiratory (18). The average time between intubation and execution of TLT was 4.2 +/- 1.3 days. RESULTS: Fifty four patients died (52%) and 50 patients lived (48%). Two complications (1.9%) occurred in those who survived: a breaking of the guidewire in traction. Extraction of the tracheostomy tube by clamp, a haemorrhage in 2nd post-operative day due to a thyroid vessel lesion. The haemostasis was performed by classical tracheostomy. The average number of days to decannulation was 25 +/- 1 days. CONCLUSIONS: TLT reduces trauma or trachea and neighbouring structures. This technique is safe and easy. TLT is an effective method, in non-urgent situations, in children and adults, as well as in brachytypes and the obese.

Adolescent↗
PubMed2002

Thyroid nodules.

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Biopsy, Needle↗
PubMed2002

Hypothyroidism.

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Humans↗
PubMed2001

Thyroid diseases in patients treated during pre-puberty for medulloblastoma with different radiotherapic protocols.

We evaluated thyroid disease in 32 patients treated, during pre-puberty, for medulloblastoma, followed for at least 4 years and without relapse during observation. After surgery the patients underwent chemotherapy (CT) and radiotherapy (RT). The protocols were as follows: 20 patients (group A) SNC 76 and SNC 85 protocols which included conventional fractionated RT (36-40 Gy to the craniospinal axis and a 14-18 Gy boost to the posterior fossa, administered as 1.5-1.8 Gy per fraction per day) and a junction between the cranial and the spinal fields at C2-C3 level; 12 patients (group B) SNC 91 protocol which included hyperfractionated RT (36 Gy to the craniospinal axis and a 30 Gy boost to the posterior fossa; this was administred as 1 Gy per fraction twice per day) and a junction at levels C5-C6 or C6-C7 level. The mean age at diagnosis was 7.4+/-3.2 years for group A and 8.4+/-2.6 years for group B. Thyroid function was evaluated yearly and ultrasonographic characteristics every 2 years. The patients were followed for a mean of 10.8+/-3.8 for group A and 6+/-1.4 years for group B. Primary hypothyroidism was diagnosed in 16 group A patients and 4 group B patients, and central hypothyroidism was diagnosed in 2 group A patients (difference in risk of developing hypothyroidism evaluated with a Wilcoxon-test: p=0.048). Ultrasonography showed reduced thyroid volume in 7 group A cases, and structural changes in 21 patients (17 group A, 4 group B); 9 L-thyroxine-treated patients were confirmed hypothyroid after having stopped therapy. A thyroid nodule was detected in two cases (one from each group). In conclusion, our data indicate that thyroid injury may be diminished by the use of hyperfractionation and low-junction radiotherapy in the treatment of medulloblastoma.

Adolescent↗
PubMed2001

Management of puberty in constitutional delay of growth and puberty.

Constitutional delay of growth and puberty (CDGP) is the most common presenting form of short stature, but no single test can infallibly discriminate CDGP and isolated hypogonadotrophic hypogonadism. Management of puberty in CDGP aims to optimise not only growth maintaining body proportions and improving peak bone mass without impairing growth potential--but also well-being; for example, the distress boys often suffer because of their lack of growth and pubertal progression can affect their school performance and social relationships. Typical sex steroid treatments to induce puberty in boys with CDGP include testosterone (T) enanthate, T undecanoate, mixed T esters, T transdermal patches, and oxandrolone p.o. Compared with other regimens, short-course low-dose depot T i.m. is an effective, practical, safe, well tolerated, and inexpensive regimen. Some unresolved problems in management include optimal timing and dose of sex steroid treatment, the role of GH in CDGP, and the management of CDGP in girls.

Adolescent↗
PubMed1998

T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone and dysmorphism. Mutations in brief no. 192. Online.

Resistance to thyroid hormone (RTH) is a rare inherited autosomal syndrome caused by mutations in the thyroid hormone receptor beta (TRb) gene. Although RTH is generally a familiar disease, 15% of sporadic cases have been also reported. So far, about 80 different mutations of TRb gene have been identified in patients affected by RTH. All these mutations localize to the binding domain and most of them cluster within two "hot spots" (codons 310-349 and codons 429-460). Here we describe in a patient with RTH, a new mutation in codon 426 (T426I) of the TRb gene leading to a threonine to isoleucine substitution. This is a "de nova" mutation which localizes in the so-called "cold" region, outside the two known "hot spots". The patient had the hallmark of RTH: elevated FT3 and FT4, normal TSH, and clinical features of both hypo and hyperthyroidism. Moreover, several dysmorphisms were present including triangular face appearance, synophris, low set ears, micrognathia with malocclusion, large upper incisors and apparent lack of lower cuspids which have not previously described in RTH patients.

Craniofacial Abnormalities↗
PubMed1997

Long-term outcome of male-limited gonadotropin-independent precocious puberty.

Long-term outcome of five new cases of male-limited precocious puberty (MPP) is reported. Three patients had positive family history. One patient was untreated; 2 boys received cyproterone acetate (2.0-3.6 mg/kg/daily) without clinical effects. Two patients were treated with ketoconazole (600 mg/daily); in 1, GnRH analogue therapy (Buserelin, 1,600 microg/day) was added after 6 months of effective ketoconazole treatment for development of central precocious puberty. The other patient did not develop central puberty under ketoconazole treatment and improved his predicted adult height from 172.4 to 181.1 cm. Four patients reached final height [B.A. (therapy cyproterone acetate): age 22.0 years, -2.0 SDS; B.G. (untreated): age 15.5 years, -1.7 SDS; M.M. (therapy cyproterone acetate): age 19.5 years, -1.6 SDS; M.F. (therapy ketoconazole plus GnRH analogue): age 21.3 years, -2.2 SDS]; three had reduced testicular volume (B.A.: -1.6/-1.6 SDS; B.G.: -2.1/-2.1 SDS; M.F.: -2.4/-1.9 SDS); one (M.F.) showed oligospermia. We concluded that in MPP cyproterone acetate treatment did not improve final height; ketoconazole was effective in reducing testosterone secretion, but its real effect on final height cannot be determined; the timing of central puberty may be precocious, suggesting that an adjunctive GnRH analogue treatment may be needed. In some patients, testicular impairment may be present in young adulthood.

Androgen Antagonists↗
PubMed1996

[Precocious puberty].

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Antineoplastic Agents, Hormonal↗
PubMed1995

Non-palpable testes. Orchiopexy in single stage.

From 1986 to 1990, 53 non-palpable testes were treated in the department of Pediatric Surgery and Endocrinology at the Regina Margherita Hospital, Turin, Italy. The reported patients were 45, 8 of them were bilateral with both testes non-palpable, 13 of the remaining patients were right cryptorchid and 24 were left. All patients received medical treatment, by LH-RH nasal spray and HCG, before surgery. None of the non-palpable testes descended by hormone therapy only, so that surgical exploration was always required. In the 53 reported cases, 10 gonads were not found, 13 were atrophic and 30 were abdominal. All abdominal gonads were positioned into the scrotum by orchiopexy in a single stage. Half of the patients underwent operation before the age of 2. Therefore, it is to be pointed out that the younger a patient the shorter his inguinal canal, this facilitates orchiopexy for high, undescended testes. In 10 patients a testicular biopsy was made during surgical procedure. Normal morphology and normal spermatogonia content were observed in the abdominal testes of the patients who had reached the age of 1 year. During the follow-up of the reported patients no upward displacement was observed. Eleven patients underwent postoperative testicular ultrasonography which showed that parenchymal structure of the operated testis was normal and the volume of the testis was slightly smaller than normal. Based on their experience, the authors suggest to correct cryptorchidism before the age of one year, surgical procedure follows immediately after ineffective hormone therapy.

Child, Preschool↗
PubMed1994

Final height in girls with central precocious puberty: comparison of two different luteinizing hormone-releasing hormone agonist treatments.

In order to evaluate the effects of two long-acting luteinizing hormone-releasing hormone agonists on growth, bone maturation and final height in girls with central precocious puberty, we analyzed growth data from 40 girls (15 treated with buserelin intranasal spray (group A), 15 treated with triptorelin depot im every 28 days (group B) and 10 untreated (group C)). Patients in group A started treatment when chronological age (CA) was 7.7 +/- 0.9 years, bone age (BA) was 10.2 +/- 1.1 years and height was 131.9 +/- 5.0 cm. Patients in group B started therapy when CA was 7.6 +/- 0.5 years, BA 9.8 +/- 1.0 years and height 133.2 +/- 7.6 cm. The diagnosis of untreated patients (group C) was made when CA was 7.2 +/- 0.9 years, BA 9.6 +/- 2.2 years and height 130.2 +/- 8.6 cm. Both luteinizing hormone-releasing hormone agonists appeared to control precocious puberty. Final height in group B (160.6 +/- 5.7 cm) was significantly higher than that of group A (153.2 +/- 5.0 cm: p < 0.05) and group C (149.6 +/- 6.3; p < 0.01), whereas the difference between groups A and C was not statistically significant. In group B a positive difference was observed between final height (160.6 +/- 5.7 cm) and target height (157.6 +/- 5.9 cm) (ns); on the contrary, in groups A and C, final height was lower than target height (155.5 +/- 5.3 and 156.4 +/- 1.3 cm, respectively), but only in group C the difference was statistically significant (p < 0.01).(ABSTRACT TRUNCATED AT 250 WORDS)

Administration, Intranasal↗