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PubMed2000

Testosterone therapy in men: clinical and pharmacological perspectives.

There is increasing evidence that androgen therapy in men may be effectively applied in several conditions to improve well being and health. Classical indications for androgen therapy in males are represented by primary or secondary hypogonadism, delayed puberty, aplastic anemia and that secondary to chronic renal failure, protein wasting diseases such as trauma, burns, tumors and infectious diseases. Androgen innovating applications in men are represented by aging and visceral obesity associated with the metabolic syndrome. In addition, it is clear that appropriate testosterone treatment can be adequately used in male contraception, provided spermatogenesis is abolished and tolerability is adequate. Due to unphysiological hormone levels achieved by currently available testosterone preparations, new delivery systems have been produced to achieve more physiological and sustained hormone levels and improve tolerability and action at the levels of target tissues. Some of them are now available in several countries and new formulas are under development.

Aging↗
PubMed2001

Exercise-related female reproductive dysfunction.

Clinical or biochemical abnormalities of gonadal function, consisting of delayed puberty, luteal phase deficiency, oligo-amenorrhea or anovulation, occur in girls and women participating in strenuous sports. The evidence of a causal relationship between athletic activity and menstrual dysfunction has led to increased interest, also because the number of women who practice sports has increased rapidly. The pathogenesis of exercise-related female reproductive dysfunction (ERFRD) is not completely clarified. The heterogeneity of sports practice, the role of overtraining and other factors, as adequate calorie balance or the assumption of exogenous steroids, could play a primary role in the comprehension of the pathogenic mechanisms of reproductive dysfunction. The interest of physicians about ERFRD is also due to the consequences of reduced gonadal function on women's health. Apart from some short-term transient effects (i.e. on muscle, genito-urinary tract or behavior), hypoestrogenemia can induce long-term deleterious effects, as premature osteoporosis and lifelong impairment of skeletal structure. In view of the possible short-term (infertility) and long-term (osteoporosis) consequences of ERFRD, correct physical training and adequate diet approach are mandatory to prevent or to revert neuroendocrine abnormalities so frequently reported in girls and women participating in recreational or competitive athletic activities.

Energy Intake↗
PubMed2006

Cortisol, dehydroepiandrosterone sulphate and dehydroepiandrosterone sulphate/cortisol ratio responses to physical stress in males are influenced by pubertal development.

To evaluate the influence of chronological age and pubertal development on the hypothalamus-pituitary-adrenal (HPA) axis response to stress, we studied the possible correlations between male pubertal characteristics and salivary cortisol (C), DHEAS and the DHEAS/C ratio before (pre-stress) and after acute exercise-stress in young male volunteers (no. 87; 13.3+/-2.1 yr). In our overall study population, the mean pre-stress salivary C and DHEAS concentrations, significantly increased after exercise-related stress, whereas the DHEAS/C ratio significantly decreased. Pre-stress salivary C was positively correlated with chronological age, and after-stress salivary C concentration variations were negatively correlated with pubertal stage, mean testis volume and pre-stress salivary DHEAS. Furthermore, salivary DHEAS concentrations and the DHEAS/C ratio, before and after exercise stress, were positively correlated with chronological age, pubertal stage, pre-stress salivary testosterone (T), testis volume and body mass index (BMI). In contrast with late pubertal stages (P4, P5), young individuals at early stages of puberty (P1 to P3) showed higher C increase and lower DHEAS/C ratio after exercise-related stress. In conclusion, since C is also a mediator of stress-related negative effects on health and the DHEAS/C ratio has been hypothesized as an index for the degree to which an individual is buffered against the negative effects of stress, these data might suggest potentially increased stress-related risks at early stages of male puberty.

Adolescent↗
PubMed2004

[Diagnosis and therapy of hypogonadism in adult males].

Hypogonadism in men is defined as endocrine dysfunction of the testes, and due to reduced serum testosterone levels leads to symptoms of testosterone deficiency. Depending on the location of disruption in the endocrinological cycle, hypogonadism is classified as primary, secondary, or tertiary. In primary hypogonadism, the production of testosterone in the Leydig's cells of the testes does not function properly. Serum LH concentrations are elevated in the sense of counterregulation (hypogonadotropic hypogonadism). In secondary hypogonadism, LH secretion (and usually also FSH) from the hypophysis is impaired so that Leydig's cells are not stimulated, while in tertiary hypogonadism the hypothalamus is damaged. The clinical course in cases of reduced serum testosterone levels is determined essentially by the point in time when hypogonadism becomes manifest. Delayed puberty, eunuchoid stature, and underdeveloped secondary sex characteristics suggest prepubertal onset of hypogonadism.

Adult↗
PubMed2005

Bone measures in HIV-1 infected children and adolescents: disparity between quantitative computed tomography and dual-energy X-ray absorptiometry measurements.

Investigators have found that dual-energy X-ray absorptiometry (DXA) of areal bone mineral density (BMD) values in HIV-1 infected children and adolescents are reduced. Volumetric bone density (BD) measured by quantitative computed tomography (CT) in this population has not been studied. This study was designed to evaluate bone measurements in HIV-1 infected children and adolescents using DXA and CT. Fifty-eight children and adolescents (32 females and 26 males with a mean age +/- SD of 12.0+/-3.9 years, age range 5.0-19.4 years) with perinatally acquired HIV-1 infection underwent simultaneous bone area and density evaluation by DXA and CT. Height and weight measurements as well as pubertal assessment were performed on the same day. All but four subjects were receiving highly active antiretroviral therapy (HAART). Subjects were matched with healthy children and adolescents for age, gender, and ethnicity. HIV-1 infected children were significantly shorter (P <0.001), lighter (P <0.005), and had delayed puberty (P <0.001) compared to controls. Using DXA, HIV-1 infected subjects had significantly less bone area (P <0.001), bone mineral content (BMC) (P <0.005), and BMD (P <0.05) at the vertebral level compared to controls. In addition, bone area (P <0.001), BMC (P <0.001), and BMD (P <0.005) of the whole body were also reduced relative to controls. In contrast, using CT, HIV-1 infected subjects had similar vertebral BD compared to controls, but smaller vertebral height and cross-sectional area (CSA) (P =0.01 and P <0.005, respectively). DXA Z-scores provided values significantly lower than CT Z-scores in the HIV-1 infected population (P <0.01). After accounting for weight and vertebral height, stepwise multiple regression demonstrated that the prediction of CT BD values of L1 to L3 from DXA values of these vertebrae was significantly improved. HIV-1 infected children and adolescents have lower vertebral and whole body BMC and BMD DXA measures. In contrast, vertebral BD measurements by CT are normal. The lower bone measurements were primarily due to the decreased bone and body size of the HIV-1 subjects.

Absorptiometry, Photon↗
PubMed2003

Growth hormone (GH) deficiency in patients with beta-thalassemia major and the efficacy of recombinant GH treatment.

Patients with beta-thalassemia major still suffer growth retardation. After excluding patients with cortisol deficiency, hypothyroidism, hypogonadism, delayed puberty, malnutrition, severe congestive heart failure, and severely impaired liver function, 29 patients were enrolled in this study. Fifteen (52%) patients exhibited growth retardation and underwent two growth hormone (GH) provocation tests. Eight (53%) of the 15 patients had GH deficiency and were subsequently treated with subcutaneous recombinant human GH (Genotropin, Pharmacia Corporation, Sweden). Growth velocity increased from the pretreatment rate of 3.1+/-0.4 cm/year to 7.1+/-1.6 cm/yr (p<0.001) after 1 year and to 6.8+/-1.3 cm/year (p<0.001) after 2 years. Patients with growth retardation had lower insulin like growth factor-1 (p=0.001) and insulin like growth factor binding protein-3 (p=0.003) levels than those without growth retardation. In patients with beta-thalassemia major, growth retardation is a common complication and GH deficiency plays an important role. Thalassemic patients with GH deficiency can safely increase their growth velocity with recombinant human GH for 2 years; however, the effect on final height still needs to be determined.

Adolescent↗
PubMed1998

Kabuki make-up syndrome and report of a case with hydrocephalus.

We report a 22-year-old man with hydrocephalus caused by aqueductal stenosis. The patient was diagnosed with Kabuki make-up syndrome based on associated findings such as a peculiar facies, postnatal growth deficiency, brachydactyly of the fifth fingers, undescended testes, and malrotation of the colon. Kabuki make-up syndrome, recognized in Japan in 1981, is characterized by five cardinal manifestations: a peculiar facies, skeletal anomalies, dermatoglyphic anomalies, slight to moderate mental retardation, and postnatal dwarfism. Neurological anomalies have been reported to include neonatal hypotonia, feeding problems, seizures, West syndrome, microcephaly, brain atrophy, GH deficiency, precocious puberty, delayed sexual development, and diabetes insipidus. Aqueductal stenosis may be caused by part of the series of midline anomalies. Physicians should pay attention to associated anomalous characteristics suggesting a malformation syndrome when they encounter nontumoral aqueductal stenosis in adolescents or adults.

Abnormalities, Multiple↗
PubMed1999

Hypothalamic-pituitary function and growth in children with intracranial lesions.

Intracranial lesions may affect hypothalamic-pituitary (HP) function and growth in several ways, depending on the location of the lesion within this area, the presence or absence of secondary hydrocephalus, and/or treatment of the lesion by surgery and/or radiotherapy. The lesion may cause a deficiency of HP hormones or, conversely, activation of the HP-gonadal axis leading to precocious puberty. Growth hormone (GH) deficiency is the most frequent endocrine abnormality that results from the lesions of the HP area. There has been progress in diagnosis, patterns of replacement therapy and the administration of biosynthetic GH in association with gonadotropin-releasing hormone analogues in precocious puberty. The major problem in these patients is the dramatic increase in their weight, which frequently occurs after surgery and increases their psychosocial and physical disabilities. It may be due to the hyperinsulinism caused by the lesion. This hyperinsulinism may be the factor that replaces GH in stimulating growth factor production and leads to normal growth in some of the patients.

Brain Neoplasms↗
PubMed2001

Biliary atresia with hyperandrogenic amenorrhea.

The etiology of hyperandrogenic amenorrhea in a patient with biliary atresia successfully treated by a Kasai operation was unclear. Delayed puberty and menarche were evident at 16 years of age. Investigations showed no luteinizing hormone (LH)-follicle-stimulating hormone surge. A LH-releasing hormone provocative test showed a normal response. Peripheral aromatization of androgens appeared to function normally. Free testosterone (T) was normal, however, plasma levels of sex-hormone-binding globulin and total T were high. After menarche at 18 years of age, anovulatory menstrual cycles continued. A combination of estrogen and progesterone therapy was effective. A possible explanation may be that metabolic clearance of T is reduced in the presence of liver cirrhosis and a portosystemic shunt.

Amenorrhea↗
PubMed2002

Historical highlights and unsolved problems in glycogen storage disease type 1.

UNLABELLED: Thirty-three years after Von Gierke described the first patient with glycogen storage disease type 1 (GSD1) in 1929, the Coris detected glucose-6-phosphatase (G6Pase) deficiency. The first mutation of this enzyme was identified 41 years later and subsequently the gene was mapped to chromosome 17q21, its enzyme topology defined, a nine transmembrane helical model suggested, an enzyme deficient knockout mouse created and by infusing an adenoviral vector associated murine G6Pase gene, correction of the clinical and laboratory abnormalities was observed. A similar successful gene transfer has been performed in enzyme deficient canine puppies. To explain the function of the G6Pase complex, a multicomponent translocase catalytic model has been proposed in which different transporters shuttle glucose-6-phosphate (G6P), inorganic phosphate (Pi) and glucose across the microsomal membrane. It was suggested that GSD1b patients suffered from a G6P transporter (G6PT) defect and the first mutation in the G6PT gene subsequently recognised. The gene mapped to chromosome 11q23 and its structural organisation was defined which showed a close functional linkage between G6PT and hydrolysis. Nordlie identified the first patient with Pi transport deficiency (GSD1c). However putative GSD1c and 1d patients based on kinetic studies were found to harbour mutations in the G6PT gene so that GSD1 patients are presently divided into 1a and non-1a. G6PT deficient patients suffer from numerical and functional leucocyte defects. A mRNA leucocyte G6PT deficiency has been suggested to account for the glucose phosphorylation and subsequent calcium sequestration defects observed in theses cells. Inflammatory bowel disease which occurs frequently in GSD non-1a patients has been related to their leucocyte abnormalities. Dietary management of GSD1 patients, designed to maintain a normal blood glucose level can be achieved during the night by nocturnal gastric infusions of glucose-containing solution or by the administration of uncooked cornstarch around the clock or by a combination of both. Both therapeutic modalities, if conducted in a meticulous manner, have a major impact on the quality of life, prevention of complications and subsequent prognosis. Open questions relate to the source of endogenous glucose production in GSD1 patients which increases as a function of age from 50% to 100% of normal, concomitant with an improvement in the patients fasting tolerance. Several complications, the nature of which is incompletely understood, tend to occur after the first decade: Liver adenomata with a small risk of transforming into hepatoma, progressive renal disease, which may be related to the hyperlipidaemia observed in this disease, often leading to end stage renal failure, osteopenia apparently based on high bone turnover, growth retardation and delayed puberty. CONCLUSION: this review highlights the present knowledge of glycogen storage disease type 1 and subtypes, discussing unsolved questions, which reflect the limitation of our knowledge in the understanding of this intriguing group of diseases.

Animals↗
PubMed2000

Bioimpedance and inferior vena cava diameter for assessment of dialysis dry weight.

It is essential to carry out a clinical assessment of dry body weight in dialysis-dependent children in order to develop a suitable dialysis prescription. Bioimpedance analysis and inferior vena cava diameter (IVCD) have been evaluated and utilized in adults as noninvasive parameters for the assessment of dry weight and extracellular volume. Since there are no data available for normal children, we performed a prospective study to establish reference standards for a pediatric population (111 females and 95 males, aged 6.8-16 years). We found strong correlations of both resistance and IVCD with age, height, weight, and, in particular, with body surface area. IVCD and resistance also correlated with each other. We also investigated 28 pediatric dialysis patients who showed growth retardation and delayed puberty. Applying age-related reference intervals to pediatric dialysis patients resulted in an underestimation of overhydration. The combination of both methods using body surface area-related reference limits with the clinical features of deviation of dry weight will serve as an adjunct to the assessment of post-dialysis dry weight.

Adolescent↗
PubMed2005

Determinants of peak bone mineral density and bone area in young women.

Osteoporosis is a disease caused by compromised bone strength, and individuals with a high peak bone mass at a young age are likely to have a high bone mass in old age. To identify the clinical determinants of peak bone mass in young adult women, 418 southern Chinese women, aged 20-39 years, were studied. Low bone mass was defined as areal bone mineral density (aBMD) Z-score < -1 at either the spine or total hip. Within the cohort, 62 (19.0%) and 86 (26.4%) women had low aBMD at the spine and hip, respectively. Regression model analysis revealed that low body weight (<44 kg) was associated with an 8.3-fold (95% CI, 3.7-18.9) and a 6.8-fold (95% CI, 3.0-15.6) risk of having low aBMD at the spine and hip, respectively. Low body weight was also predictive of low volumetric BMD (vBMD) at the spine (odds ratio (OR) 7.8, 95% CI, 3.1-20.1) and femoral neck (OR 3.0, 95% CI, 1.3-7.1). A body height below 153 cm was associated with a 4.8-fold risk in the small L2-4 bone area (95% CI, 2.3-9.8) and a 3.9-fold risk in the small femoral neck area (95% CI, 1.9-8.1). Delayed puberty (onset of menstruation beyond 14 years) was associated with a 2.2-fold (95% CI, 1.0-4.9) increased risk of having low aBMD at the hip. Physical inactivity was associated with a 2.8-fold risk of low spine vBMD (OR 2.8, 95% CI, 1.1-6.7) and a 3.3-fold risk of low hip aBMD (95% CI, 1.0-10.0). Pregnancy protected against low spine aBMD (OR 0.4, 95% CI, 0.1-1.2) and spine vBMD (OR 0.1, 95% CI, 0.0-1.0), low femoral neck vBMD (OR 0.3, 95% CI, 0.1-1.1) and small L2-4 bone area vBMD (OR 0.3, 95% CI, 0.1-1.1). In conclusion, this study identified a number of modifiable determinants of low peak bone mass in young adult women. Maintaining an ideal body weight, engaging in an active lifestyle, and diagnosing late menarche may enable young women to maximize their peak bone mass and so reduce their risk of osteoporosis in later life.

Adult↗
PubMed2002

Bone mineralization in Turner syndrome: a transverse study of the determinant factors in 58 patients.

Turner syndrome (TS) is characterized by the presence of an X chromosome and total or partial loss of the second sex chromosome, short stature, hypergonadotrophic hypogonadism, and a variable dysmorphic picture. Delayed puberty and estrogen deficiency are some of the determinant factors of osteoporosis in TS, but the whether or not there is an intrinsic bone defect is still obscure. The aim of this study was to evaluate the correlation of the z score of bone mineral density (BMD) with age, weight, height, karyotype, associated diseases, bone age, and estrogen therapy in TS patients. We performed a transverse study with area BMD of L2-L4 with dual-energy X-ray absorptiometry (DEXA) in 58 patients with a cytogenetic diagnosis of TS, whose ages ranged from 5 to 29 years. It was observed that 86% of the patients presented with a BMD z score below -1 SD, and 46.5% with a value below -2.5 SD. There was a significant negative association of BMD with age and height, and a positive association with weight and bone mass index (BMI) z scores. A higher BMD was observed in patients with spontaneous puberty and in those with more than 2 years of hormone replacement. In conclusion, there was a high incidence of reduced bone mass among our patients, which was influenced by weight and BMI, by the use and the time of estrogen replacement, and by the presence of spontaneous puberty.

Adolescent↗
PubMed1995

Carbohydrate metabolism in primary growth hormone resistance (Laron syndrome) before and during insulin-like growth factor-I treatment.

Among 43 patients with Laron syndrome followed in our clinic, we were able to study the carbohydrate metabolism from infancy into adult age in 30 patients. During infancy, fasting blood glucose levels were in the hypoglycemic range (mean +/- SD, 3.5 +/- 1.2 mmol/L) and increased at the end of a delayed puberty to 4.6 +/- 0.6 mmol/L. Fasting plasma insulin was higher than expected for concomitant glucose levels, and several of the 20 patients who underwent an oral glucose tolerance test (OGTT) had glucose intolerance and relatively high insulin levels. In adult patients, insulinopenia developed and one 38-year-old patient developed non-insulin-dependent diabetes mellitus (NIDDM) with subsequent need for insulin therapy. Continuous insulin-like growth factor-I (IGF-I) treatment of a pubertal patient with glucose intolerance and hyperinsulinemia normalized both responses. In conclusion, long-term IGF-I deficiency leads to insulin resistance, which is reversed by exogenous IGF-I administration.

Blood Glucose↗
PubMed1991

Reduced spinal bone density in young women with amenorrhoea.

To assess the influence of diminished oestrogen production on bone density, we studied 23 amenorrhoeic women and 20 controls (age range 16-29 years) divided into four groups: group 1: 6 patients with idopathic hypogonadotrophic hypogonadism with primary amenorrhoea (IHH); group 2: 5 patients with delayed puberty owing to thalassaemia major (TM); group 3: 12 patients with secondary hypothalamic amenorrhoea (HA); group 4: 20 women with normal menses (controls). Secondary sexual characteristics had developed in all except the women with TM. Groups 1 and 2 had never menstruated and group 3 had been amenorrhoeic for 6 months to 3 years. The control group was studied during the follicular phase of the cycle. None of the patients were taking oestrogens at the time of observation. Plasma concentrations were determined for 17 beta-oestradiol (E2), deidroepiandrosterone sulphate (DHEA-S), cortisol (F), prolactin (PRL), thyroid hormones (T3 and T4), and gonadotrophins (LH and FSH). Spinal bone mineral density (BMD g/cm2) was assessed by dual photon absorbiometry. BMD (mean +/- 1SD) was reduced in the patients (group 2: 0.920 +/- 0.95; group 1: 0.980 +/- 0.94; and group 3: 1.037 +/- 0.75) as compared with the controls (1.290 +/- 0.95) (P less than 0.01). In the three groups of patients, plasma E2 levels were lower than 50 pg/ml and were positively correlated with the BMD. As expected, plasma gonadotrophin levels were highly and significantly reduced (P less than 0.01) in the patients, compared with that of the controls. These results suggest that reduced spinal BMD in hypogonadic women may be related to the lack of oestrogenic influence on bone metabolism.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1994

Inhibition of sexual maturation in juvenile female and male mice by a chemosignal of female origin.

Maturation of juvenile house mice (Mus domesticus) exposed to synthetic 2,5-dimethylpyrazine was compared to the maturation of juvenile male and female mice exposed to urine from adult males and grouped females. Exposure of juvenile male mice to the synthetic compound significantly inhibited the growth of their testes and sex-accessory glands in a fashion similar to the urine of adult males and grouped females. The uterine weight and the presence of ova in the oviducts in females was strongly affected by synthetic stimuli. The majority of females (76-84%) exposed either to grouped females' urine or to the synthetic compound did not exhibit significant uterine weight increase and did not achieve pubertal ovulation before the age of 30 days as it has been reported for control mice. It is suggested that 2,5-dimethylpyrazine delays puberty of juvenile conspecifics in a population and may function whenever the living conditions of growing animals are below the level required for successful reproduction.

Animals↗
PubMed1986

18q deletion syndrome in a child with steroid-17,20-lyase deficiency.

The del (18q) syndrome is characterised by poor growth, variable mental retardation, facial dysmorphism, and abnormalities of the genitalia. In genetic males, genital abnormalities vary from testicular ectopia, and microphallus to severe hypospadias. Genetic females frequently have hypoplasia of the labia minora. We describe a child with del (18q) syndrome and severe ambiguous genitalia. Serum testosterone after 4 doses of hCG (5000 IU/m2/dose) was only 50 ng/dL (expected greater than 300 ng/dL). When testicular tissue was incubated with [1,2-3H]progesterone and 17-hydroxy-[4-14C]progesterone, there was synthesis of 17-hydroxy-[1,2-3H]progesterone but no further metabolism of 17-hydroxyprogesterone to androgens. These data suggested the presence of steroid-17,20-lyase deficiency. In order to determine if steroid-17,20-lyase deficiency was a common feature in del (18q) syndrome we examined 6 other patients (3 girls; 3 boys) with a deletion of the long arm of chromosome 18 distal to band q21. All 6 had dehydroepiandrosterone sulfate (DHEA-S) levels which were lower than those of age-matched controls. Four had delayed puberty. Serum testosterone levels were also low in 2 of the 3 affected boys. These results together with the findings in the index case suggest that a structural or regulatory gene for steroid-17,20-lyase may be located on the long arm of chromosome 18, distal to band q21.

Abnormalities, Multiple↗