Search PubMed⌕ Search

Biomedical subjects

G Giovannelli

Publications and source records attributed to G Giovannelli.

At least 37 records · Page 2Linked to original sources
PubMed1984

Precocious puberty in a male with Prader-Labhart-Willi syndrome.

True precocious puberty is reported in a male child with Prader-Labhart-Willi syndrome. The diagnosis of precocious puberty was made at 8 6/12 years of age when a spontaneous migration of previously unpalpable testes (mean volume = 5 ml), an increase in penis length (from 2 to 6 cm) and a growth spurt (8.4 cm/year) occurred. The follow-up until 13 years of age (bone age 15 years) showed a progressive pubertal development, facial acne (10 years), frequent spontaneous erections and ejaculations (11 years). Repeated endocrine and neuroradiological investigations were consistent with an idiopathic form of precocious puberty.

Adolescent↗
PubMed1983

Tetrasomy 9p confirmed by GALT.

We report a boy aged 12 years 7 months with mental retardation, hydrocephalus, dysmorphic facial features, congenital heart disease, and skeletal and renal anomalies. The karyotype showed a mosaic tetrasomy 9p involving the secondary constriction. This result was confirmed by tetraplex gene dosage effect for galactose-1-P-uridyltransferase (GALT). Comparing the clinical features of our case with those of previously reported patients, tetrasomy 9p appears to be a distinctive and clinically recognisable malformation syndrome.

Abnormalities, Multiple↗
PubMed1983

[Unilateral monorchidism and cryptorchism. Clinical and biological findings useful in the differential diagnosis].

Eighteen prepuberal children with only one testis palpable in the scrotum were studied in order to review the clinical and endocrinological data useful for differentiating monorchidism from unilateral cryptorchidism. Compensatory testicular hypertrophy, high LH and FSH response to LH-RH (100 micrograms/1.73 m2) and well preserved Leydig cell function after HCG (5,000 IU/m2) should lead to the diagnosis of monorchidism, either both congenital or secondary to severe atrophy of the unpalpable testis. When these findings are lacking the diagnosis of unilateral cryptorchidism should be considered.

Child↗
PubMed1982

Pineal region tumors: endocrinological aspects.

The pineal gland and the superior cervical ganglia represent an integration center for hormonal and neural signals, and play an important role in modulating basic hormonal secretions. The prevalence of pineal tumors in the male sex and their frequent association with precocious puberty has been known for a long time. However, the rarity of ascertained cases investigated by means of direct and sensitive methods (RIA; tests applying hypothalamic releasing factors) is still preventing the proper knowledge of the endocrinological aspects of pinealomas. On the basis of the recent literature, the importance of diabetes insipidus as a very early symptom of pineal region tumors should be emphasized; in some cases, it preceded the appearance of precocious puberty of neuro-ophthalmologic signs by some years. A variable pattern of anterior pituitary impairment is also a rather common finding. In rare cases (males, with few exceptions), the precocious puberty may be explained by the presence in the pineal tumor of trophoblastic tissue secreting hCG; some of these tumors produce also alpha-fetoprotein (evidence of a yolk-sac tumor).

Adolescent↗
PubMed1982

[Treatment of diabetic ketoacidosis in children].

Two groups of children with severe diabetic ketoacidosis were treated with 2 different insulin regimens: the first with conventional intermittent intramuscular insulin injections (0.5-1.0 U/kg/3-4 hrs), the second, with continuous low-dose insulin infusion (0.05-0.1 U/kg/hr). Therapeutic effects were compared. Compared to the conventional regimen, low-dose insulin infusion showed several advantages: 1) better control of blood glucose level, 2) no risk of hypoglycemia and hypokaliemia, 3) rapid decrease of urinary ketone bodies and 4) gradual acidosis correction. When associated with a proper replacement of fluids and electrolytes, low-dose insulin infusion appeared to be a simple and effective regimen in the treatment of children with diabetic ketoacidosis.

Adolescent↗
PubMed1981

HLA genotypes and HLA-linked genetic markers in Italian patients with classical 21-hydroxylase deficiency.

HLA genotype and HLA-linked marker data for 40 unrelated patients from central Italy and 2 unrelated patients from Sardinia with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH-def) were analyzed. The results confirm that the HLA-linked 21-OH-def gene is associated with several different HLA determinants and complete HLA haplotypes, although the only determinant with significantly increased frequency was the complement C2 allele C2B. The HLA antigens B8 and DR3 were found in significantly decreased frequencies. The haplotype A3, Cw6, Bw47, BfF, DR7, which is exceptionally rare in the general population but which has been found in many other 21-OH-def patients from diverse geographical origins, was also found in one of the Italian patients. This and other HLA haplotype associations found among the Italian patients may represent mutations that have occurred on HLA haplotypes with genetic linkage disequilibrium or, alternatively, may represent mutations that have not yet had time to become randomly associated with different HLA complex determinants. The marked negative associations with B8 and DR3 could, however, result from an interaction between the gene products of the HLA complex and the 21-OH-def phenotype.

Adrenal Hyperplasia, Congenital↗
PubMed1981

Genetic and hormonal characterization of cryptic 21-hydroxylase deficiency.

Cryptic 21-hydroxylase deficiency has been previously described in asymptomatic family members of patients with classical congenital adrenal hyperplasia (CAH). These family members were detected by high baseline 17-hydroxyprogesterone levels found in the course of family studies. The hormonal responses to ACTH of the family members with cryptic 21-hydroxylase deficiency were determined and compared to the responses of patients with CAH, patients with acquired adrenal hyperplasia, family members predicted to be heterozygous for CAH, family members predicted to be unaffected, and the general population. The ACTH-stimulated levels of 17-hydroxyprogesterone and delta 4-androstenedione in the cryptic family members were elevated above the level of the general population or family members heterozygous for classical CAH, but below that of patients with CAH. The hormonal profile of patients with cryptic 21-hydroxylase deficiency is similar to that of patients with acquired adrenal hyperplasia. The response of family members heterozygous for the cryptic gene (21-OH CRYPTIC/21-OH NORMAL) was indistinguishable from that of family members heterozygous for the classical CAH gene (21-OH CAH/21-OH NORMAL). These studies support our previous proposal that patients with cryptic 21-hydroxylase deficiency are genetic compounds, having one gene for a severe enzyme deficiency and one gene for a mild 21-hydroxylase deficiency. Thus, the 21-hydroxylase genotype in cryptic 21-hydroxylase deficiency is 21-OH CAH/21-OH CRYPTIC.

Adolescent↗
PubMed1981

[Anesthesia for pleuroscopy. Importance of intubation with the Carlens tube for a selective diagnosis of emphysematous bullae in primary spontaneous pneumothorax].

A brief account of the origin of spontaneous pneumothorax and the indications for pleuroscopy in thoracopulmonary surgery is followed by an explanation of the advantages of this method in the selective detection of emphysematous bullae, their number and size, and the state of the lung parenchyma. The evaluation of these parameters is essential to the planning of oriented surgery. A general anaesthesia technique employing a Carlens tube in selective intubation is also illustrated. By permitting separate ventilation of the lungs this method allows a selective diagnosis to be made of emphysematous bullae (including microbullae), and prevents all forms of acute respiratory distress.

Adolescent↗
PubMed1980

Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia.

Serum androgens and 17-hydroxyprogesterone concentrations and HLA genotypes were determined in 124 families of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH). In 8 pedigrees, we discovered 16 pubertal or postpubertal family members of either sex who had biochemical evidence of 21-hydroxylase deficiency but were without clinical symptoms of excess virilism, amenorrhea, or infertility. We designated these family members as individuals with cryptic 21-hydroxylase deficiency. Within each generation, the family members with cryptic 21-hydroxylase deficiency were HLA identical. It is proposed that these family members are genetic compounds, having 21-hydroxylase deficiency as a result of two recessive gene defects: 1) a severe 21-hydroxylase gene defect present in the index case with classical CAH (21-OHCAH) and 2) a mild 21-hydroxylase gene defect (21-OHCRYPTIC). Thus, the CAH genotype in the family members with cryptic 21-hydroxylase deficiency is 21-OHCAH/21-OHCRYPTIC. Lod score analysis for linkage between the cryptogenic 21-OH trait and HLA gave a combined Lod score for males and females of theta = 0.00 of 3.409. Close genetic linkage between HLA and 21-OHCRYPTIC was thus established. This study provides support for the previously reported heterogeneity of 21-hydroxylase deficiency which may result from allelic variability at the locus for steroid 21-hydroxylase.

17-alpha-Hydroxypregnenolone↗
PubMed1980

Effects of human growth hormone on blood polyamines in hypopituitarism.

Blood levels of polyamines were evaluated in hypopituitary patients after i.m. injection of human growth hormone (hGH). After hGH administration polyamine concentration increased significantly in the first 60 minutes. The concentration of spermidine and spermine increases more in patients previously untreated or treated intermittently with hGH than in patients under continuous treatment. The results suggest that in human as well as in experimental models, polyamines could be involved in the growth process and that hGH probably stimulates polyamine synthesis.

Adolescent↗
PubMed1979

[Evaluation of the pituitary reserve of gonadotropins and seminal function of the testis in subjects operated for cryptorchism].

76 patients (prepuberal, puberal and adults) who had undergone surgery for monolateral (35) or bilateral (41) cryptorchidism in childhood were studied. Testicular volume (76 cases), seminiferal function (18 cases) and pituitary gonadotropin reserve (51 cases) were evaluated. We obtained the following results: 1) the prepuberal patients had a normal testicular volume, while 70% of the puberal and adult patients had a mean testicular volume below normal levels. 2) 55.6% of the adults who underwent spermiogram had a pathological seminiferal function. 3) The number of patients whith exagerated gonadotropin response to GnRH-test increases with increasing puberal stage and reaches its highest significance after complete puberal development. These data confirm that: 1) the long permanence of one or both testis out of their natural position has a negative influence on their trophism; 2) the long-term prognosis of the tubular function of the testis after orchidopessis is poor in a high percentage of cases. 3) the endocrine anomalies which follow the early morphologic and functional changes of the cryptorchid testis are more easily detected during puberty as a reduced hypothalamic feedback of the gonadotropin secretion.

Adolescent↗
PubMed1978

McCune-Albright syndrome in a male child: a clinical and endocrinologic enigma.

A 6 5/12-year-old boy with polyostotic fibrous dysplasia, café-au-lait pigmentation of the skin, and precocious pubertal development was studied for two years. Parathormone, calcium, phosphorus, testosterone, cortisol, and growth hormone levels were within normal limits. Urinary 17-ketosteroids, 17-ketogenic steroids, and estrogens were at the upper limits of normal. After GnRH stimulation, there was only a very slight increase in LH and no increase in FSH. There was no increase in TSH after TRH, and plasma levels of T4 and T3 were normal. The plasma prolactin level was within normal limits, and increased after TRH stimulation (with a second, delayed upsurge). Abnormal distribution of 131I in the thyroid was evident, without clearcut evidence of hyperfunctioning areas after TSH stimulation and T3 suppression tests followed by conventional scanning and gamma camera scintiphotography. Our findings do not support the claimed, single, hypothalamic origin of the disease that is presumed to result in overproduction of releasing hormones; they are more in keeping with a pleiotropic, scattered peripheral lesion, possibly of embryonal origin.

Child↗