Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Puberty, Delayed”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 361 records · Page 20Linked to original sources
PubMed1992

Autosomal dominant insulin resistance syndrome due to postbinding defect.

We investigated a family in which at least 4 men in 3 generations had a syndrome of obesity, mild mental retardation, delayed puberty, macroorchidism, acanthosis nigricans, hyperinsulinemia, and later overt insulin-resistant diabetes mellitus (non-insulin-dependent diabetes mellitus, NIDDM). The patients have markedly curly scalp hair, deficient face and body hair. Their teeth were healthy and normal in size and position. The clinical and biochemical findings and characteristics of the insulin receptors investigated in fibroblasts are reported. There was normal insulin binding to fibroblasts in the 2 brothers and their father. However, insulin-stimulated RNA synthesis was decreased as compared to that of normal control individuals. These findings suggest a postbinding defect of insulin action. The pedigree documents an autosomal dominant mode of inheritance. The diagnosis is of practical importance since it enables medical supervision of gene carriers in a preclinical state of atherosclerotic complications and overt diabetes. The findings in this family have relevance also to the explanation of familial mild mental retardation and to the study of different forms of insulin resistance due to a disturbance in biosignal transfer.

Acanthosis Nigricans↗
PubMed1992

Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome.

We describe a 3-generation family in which mother, maternal grandfather, and 2 (male and female) children have variably manifestations of the ulnar-mammary syndrome, including ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands, and a previously undescribed ectopia of upper canines. The index patient also had split-hand appearance on the right due to complete absence of the 4th ray. To our knowledge this is the first documented example of split hand in the ulnar-mammary syndrome. The hand anomaly raises the question of a possible causal relationship between ulnar-mammary syndrome and the split hand with aplasia of the ulna syndrome, as already hypothesized by Lenz [1980].

Abnormalities, Multiple↗
PubMed2004

Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: report of two adolescents and a child.

We report on a previously undescribed syndrome characterized by generalized skeletal alterations and overgrowth in three unrelated individuals: a boy who died at age 16 years, a 16-year-old girl, and a 15-month-old boy. The skeletal changes included bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Bone age was accelerated in early childhood. Overgrowth, which was independent of GH-IGF axis, was of prenatal onset in the two boys, but postnatal in the girl. In the two adolescents, growth rate did not decline with age, and high-dose estrogen therapy failed to induce physeal fusion. Their adolescent height reached +4 approximately +7 SD of the mean. Delayed puberty in the girl and cryptorchidism and hypospadias in the younger boy raised the possibility that hypogonadism is a syndromic constituent. Molecular analysis of IGF2, GPC3, and FGFR3 in the older boy yielded no abnormalities.

Adolescent↗
PubMed2007

Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities.

We describe a patient with Duchenne muscular dystrophy (DMD) who additionally suffered from intractable seizures, severe mental retardation, and a marked macroglossia. He also had endocrinologic abnormalities consisting of growth hormone deficiency, delayed puberty, and adrenal hypoplasia. We detected a duplication of DMD exon 18 and flanking introns that caused a frame-shift and was not removed by corrective splicing. A coincident mutation in the FKRP gene was excluded by direct sequencing. Complex DNA rearrangements, deletions, and duplications >100 kb were excluded through microarray-comparative genomic hybridization (CGH), although we were not able to exclude a second coincident mutation with certainty. In conclusion, we present a case of DMD that conflicts with current understanding of genotype-phenotype relations and discuss putative pathogenetic mechanisms for this uncommon phenotype.

Adrenal Insufficiency↗
PubMed1997

Short stature and failure of pubertal development in thalassaemia major: evidence for hypothalamic neurosecretory dysfunction of growth hormone secretion and defective pituitary gonadotropin secretion.

UNLABELLED: In patients with beta-thalassaemia major, frequent blood transfusions combined with desferrioxamine chelation therapy lead to an improved rate of survival. Endocrine disorders related to secondary haemosiderosis such as short stature, delayed puberty and hypogonadism are major problems in both adolescent and adult patients. A total of 32 patients with beta-thalassaemia major undergoing treatment at the Children's Hospital, University of Göttingen were examined. Fourteen of these were short in stature. Growth hormone (GH) secretion was investigated in 13 patients exhibiting either a short stature or reduced growth rate. The stimulated GH secretion of 10 patients in this subgroup lay within the normal range. Studies of their spontaneous GH secretion during the night revealed that these patients had a markedly reduced mean GH and reduced amplitudes in their GH peaks. Low insulin-like growth factor (IGF)-I levels were seen in the growth-retarded thalassaemic patients. Eight were subjected to an IGF generation test and showed a strong increase in both IGF-I and insulin-like growth factor binding protein (IGFBP)-3 levels indicating intact IGF-I generation by the liver. Hypogonadotropic hypogonadism was found to be present in both the male and female patients with impaired sexual development. After priming with LH-releasing hormone (GnRH) per pump in 2 female and 5 male patients, no change in either their serum oestradiol or testosterone levels or in LH/FSH response to GnRH was observed suggesting that they were suffering from a severe pituitary gonadotropin insufficiency. Three male patients at the age of puberty but exhibiting short stature. low GH, low IGF-I and hypogonadism received low dose long-acting testosterone. After 3 12 months of therapy there was a marked growth spurt, higher nocturnal GH levels and an increase in both IGF-I and IGFBP-3. CONCLUSION: Reduced GH secretion and low IGF-I in thalassaemic patients are related to a neurosecretory dysfunction due to iron overload rather than to liver damage. Hypogonadotropic hypogonadism is caused by the selective loss of pituitary gonadotropin function. In patients with both GH deficiency and hypogonadism, low dose sexual steroid treatment should be considered either as an alternative or an additional treatment before starting GH therapy.

Adolescent↗
PubMedDate not supplied

Comparison of two weeks versus one week of prenatal ethanol exposure in the rat on gonadal organ weights, sperm count, and onset of puberty.

Sprague-Dawley dams from Harlan Ind. (Indianapolis, IN) were administered a fortified ethanol liquid diet containing 35% ethanol derived calories for two weeks (E-2) beginning on day 7 or one week (E-1) beginning on day 13 of gestation and continuing through parturition. Control dams were pair-fed an isocaloric liquid diet containing no ethanol during these periods or remained on lab chow and water. E-2 dams consumed an average of 13.52 g ethanol/kg bwt during the first week of exposure (days 8-14) and 12.50 g ethanol/kg bwt the second week (days 14-20). E-1 dams consumed significantly less than E-2 dams during the second week (9.75 g/kg; p < 0.0001). Although the lower consumption in E-1 dams led to a significant decrease in maternal weight gained during the few days of pregnancy compared to E-2 dams, birthweights of E-1 offspring were significantly heavier than those of E-2 offspring (p < 0.05). No effect of ethanol was detected on anogenital distance at birth in either sex. Puberty was delayed in female offspring of both E-1 and E-2 dams (p < 0.01) as measured by age of vaginal opening. These data suggest that the primary teratogenic actions of ethanol in the rat on fetal growth, as well as delayed puberty in females, occur in the last week of gestation. In adult E-2 males, testis weight was significantly heavier than all other groups when indexed to body weight. No effect of prenatal ethanol exposure was observed on the indexed weights of prostate, epididymis, or seminal vesicles.(ABSTRACT TRUNCATED AT 250 WORDS)

Alcoholism↗
PubMed2006

Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.

BACKGROUND: Kallmann's syndrome (KS) is a clinically and genetically heterogeneous disorder consisting of idiopathic hypogonadotropic hypogonadism (IHH) and anosmia. Mutations in KAL1 causing the X-linked form of KS have been identified in 10% of all KS patients and consistently result in a severe reproductive phenotype. KAL1 gene encodes for anosmin-1, a key protein involved in olfactory and GnRH neuronal migration through a putative interaction with FGFR1. Heterozygous mutations in the FGFR1 gene accompanied by a high frequency of cleft palate and other facial dysmorphisms were recently identified in 8% of a large KS cohort, yet the reproductive phenotype of KS patients harboring FGFR1 mutations has not been described. RESULTS: One hundred and fifty probands with KS (130 males and 20 females) were studied to determine the frequency and distribution of FGFR1 mutations and their detailed reproductive phenotypes. Fifteen heterozygous mutations in unrelated probands were identified. Twelve missense mutations (p.R78C, p.V102I, p.D224H, p.G237D, p.R254Q, p.V273M, p.E274G, p.Y339C, p.S346C, p.I538V, p.G703S and p.G703R) were distributed among the first, second and third immunoglobulin-like domains (D1-D3), as well as the tyrosine kinase domain (TKD). The mutations Y339C and S346C are located in exon 8B and code for the isoform FGFR1c. Additionally, two nonsense mutations (p.T585X and p.R622X) were documented in the TKD of the protein. A wide spectrum of reproductive function was observed among KS probands including: (1) a severe phenotype demonstrated by microphallus, cryptorchidism, no pubertal development, undetectable serum gonadotropins and low serum testosterone (T) and inhibin B; (2) partial pubertal development; (3) the fertile eunuch variant of IHH with normal testicular size and active spermatogenesis with a reversal of HH after T therapy. In addition, we found an even wider spectrum of reproductive function within pedigrees carrying an FGFR1 mutation ranging from IHH to delayed puberty to normal reproductive function (anosmia only or asymptomatic carriers). These observations strongly suggest a role for other genes that modify the phenotype of FGFR1 mutations. CONCLUSION: KS patients and family members carrying an FGFR1 mutation present a broad spectrum of pubertal development in contrast to the almost uniform severe clinical phenotype described in KS subjects with a KAL1 mutation. Additionally, this report implicates the isoform FGFR1c in the pathogenesis of KS.

Adolescent↗
PubMed1997

Efficacy and safety of one year of growth hormone therapy in steroid-dependent nephrotic syndrome.

OBJECTIVES: To study the efficacy and safety of 1 year of growth hormone (GH) therapy in children with steroid-dependent nephrotic syndrome. STUDY DESIGN: A prospective pilot, open study in which GH (mean dose 0.32 mg/kg per week) was administered for 1 year to 8 children with steroid-dependent nephrotic syndrome requiring prednisolone (mean dose 0.46 mg/kg per day) to maintain remission. Steroid dependence was defined as recurrence of proteinuria within 2 weeks of discontinuation of prednisolone, or when the dose was lowered below a critical level. At entry, all patients had been steroid dependent for at least 1 year. Anthropometric and bone mineral density measurements after treatment were compared with 1-year pretreatment data. RESULTS: Pretreatment mean (+/-SD) chronologic age was 12.6 (+/-3.1) years, with a mean bone age of 9.1 (+/-2.0) years, with delayed puberty in five patients. The mean height velocity increased from 3.7 (+/-1.4) to 9.4 (+/-2.1) cm/yr after 1 year of treatment (p < 0.05). The mean height standard deviation score increased from -1.4 (+/-1.6) to -0.3 (+/-1.1), (p < 0.05). In the spine, the mean bone mineral density increased from 0.50 to 0.64 gm/cm2 (p < 0.05), and in the femoral neck, from 0.55 to 0.64 gm/cm2 (p < 0.05) after 1 year of treatment. Mean lean body mass increased from 58.1% to 62.6% (p < 0.01). There were no significant changes in creatinine clearance, fasting glucose, fasting insulin, or glycosylated hemoglobin levels. The mean bone age increased to 11.4 (+/-2.4) years, and pubertal stage advanced in 2 patients. CONCLUSIONS: One year of GH therapy is effective in improving the height standard deviation score, height velocity, bone mineral density, and lean body mass of children with steroid-dependent nephrotic syndrome. There were no significant adverse effects. However, the bone age accelerated at a greater pace than the height age, and further studies are required to define the role of GH therapy in steroid-dependent nephrotic syndrome.

Adolescent↗
PubMedDate not supplied

Leptin access into the brain: a saturated transport mechanism in obesity.

In spite of extensive research in the last few years, we still do not have a clear understanding of how does leptin access its targets in the brain, and whether there is postreceptor defect in the brain of obese individuals. Recent data have shown that leptin is produced in the pituitary, where its receptor is also present. A better understanding of how leptin reaches the brain and how it modulates the release of hypothalamic neuropeptides and pituitary hormones is needed. This information is crucial in order to better understand the role that leptin may play in the pathophysiology of diseases, such as obesity, delayed puberty, or growth defects.

Animals↗
PubMedDate not supplied

The role of follicle-stimulating hormone in spermatogenesis: lessons from knockout animal models.

The development of knockout mouse models for the FSH-beta subunit, the FSH receptor, and LH-receptor performed in different laboratories has confirmed and extended our knowledge concerning the critical role of these hormone-signaling systems in spermatogenesis. In this article, we summarize the phenotypic changes observed in male FSH receptor knockout (FORKO) mice. Young FORKO males have underdeveloped testis with 50% reduction in Sertoli cells, suggesting that FSH-R signaling is required very early for gonadal development, maturity, and function. These mice experience delayed puberty with postponement in the formation of round spermatids. Adult males show reduction in serum testosterone levels despite normal circulating LH concentration, indicating disturbances in Sertoli-Leydig cell communication. As a consequence of reduced sperm production and sperm quality, adult FORKO males have reduced fertility. Aberrant sperm from FORKO males have retention of cytoplasmic droplets and inadequate DNA compaction, hallmarks of infertility in many species including man. Interestingly, these changes are also experimentally inducible in FSH- and/or FSH-R-immunized male bonnet monkeys, creating a state of infertility. Reports of human mutations in FSH-beta and the FSH receptor also indicate that spermatogenesis is dependent on this system. Further investigations in FORKO males should be helpful in uncovering the downstream genes involved in sustaining Sertoli cell function and maintenance of the quantitative and qualitative aspects of spermatogenesis. This might pave the way for treatment of male infertility and contraception.

Amino Acid Substitution↗
PubMed2004

A novel 7301-bp deletion in mitochondrial DNA in a patient with Kearns-Sayre syndrome, diabetes mellitus, and primary amenorrhoea.

We report a 27-year-old woman with a form of mitochondrial myopathy including chronic progressive external opthalmoplegia, retinal pigmentary dystrophy, cerebellar ataxia, and cardiac conduction block (Kearns-Sayre syndrome). At age 13 years a cardiac pacemaker was implanted. She also had sensineural hearing loss, delayed puberty, and primary amenorrhoea. She was weelchair-bound since the age of 20 years. At age 27, insulin-dependent diabetes mellitus and osteoporosis were diagnosed. Insulin treatment was started and associated endocrinopathies were investigated. DNA analysis identified a novel 7301-bp deletion in mitochondrial DNA, ranging from position 6530 to 13 831 corroborating the diagnosis of Kearns-Sayre syndrome.

Amenorrhea↗
PubMed2004

Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene.

A 30-year-old man who presented with delayed puberty and infertility was found to have hypogonadism associated with an absence of circulating luteinizing hormone. The patient had a homozygous missense mutation in the gene that encodes the beta subunit of luteinizing hormone (Gly36Asp), a mutation that disrupted a vital cystine knot motif and abrogated the heterodimerization and secretion of luteinizing hormone. Treatment with human chorionic gonadotropin increased circulating testosterone, promoted virilization, and was associated with the appearance of normal spermatozoa in low concentrations. This case illustrates the important physiological role that luteinizing hormone plays in male sexual maturation and fertility.

Adult↗
PubMed1988

Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales.

A population-based study in south-east Wales (population 668,100) identified 135 patients with von Recklinghausen neurofibromatosis (prevalence 20/10(5]. In addition to multiple café-au-lait spots and/or dermal neurofibromas, freckling was present in the axilla (67%), groin (44%) or submammary areas (29% of adult females). Although not a criterion for diagnosis, Lisch nodules were almost invariably present in the iris (93% of patients overall; 96% of those aged greater than or equal to 20 yrs). The complications of von Recklinghausen neurofibromatosis in this cohort (n = 135 unless stated) were plexiform neurofibromas (40/125), severe mental retardation (1), epilepsy (6), optic glioma (2), spinal neurofibroma (2), aqueduct stenosis (2), meningioangiomatosis (1), scoliosis requiring surgery (6), pseudoarthrosis (3), delayed puberty (2), visceral and endocrine tumours (6), and congenital glaucoma (1). There were no cases of acoustic neuroma. Considering all living family members aged greater than or equal to 18 yrs, together with their deceased relatives, the frequency of CNS and malignant tumours related to the disease was 4.4-5.2%. Uncomplicated von Recklinghausen neurofibromatosis is disfiguring but not a major cause of morbidity. The management of the disease relates to its complications which can be divided into three categories: those which occur in childhood and cause lifelong morbidity (moderate-severe mental handicap, facial plexiform neurofibromas, orthopaedic), those which can occur at any time but are 'treatable' (benign disorders of the nervous system, visceral and endocrine tumours, renal artery stenosis), and malignant or CNS tumours. The combined frequency for each category based on this survey was 12%, 16% and 4.4-5.2%, respectively.

Adolescent↗
PubMed1996

Pituitary-testicular axis in men with beta-thalassaemia major.

Delayed puberty and hypogonadism are frequently observed in patients with homozygous beta-thalassaemia. We evaluated the pituitary-testicular axis in 30 thalassaemic men, aged from 17 to 35 years who were regularly transfused and underwent chelation therapy, while emphasis was given to pituitary reserves of gonadotrophins and the correlation of hormones with serum ferritin (SF). The investigation included endocrinological examination, evaluation of serum basal levels of follicle stimulating hormone (FSH), luteinizing hormone (LH), free testosterone and gonadotrophin-releasing hormone (GnRH) test and also spermiograms. According to the results, patients were divided into three groups: group A, which included 18 eugonadal patients with moderately elevated SF, group B which included six patients who had hypogonadotrophic hypogonadism and excessive elevation of SF, and group C, which included six patients characterized as intermediate, with regard to sexual maturation and SF levels. In conclusion, beta-thalassaemia major leads to variable pituitary iron overload and thus hypophyseal damage. This endocrine disturbance is becoming less frequent nowadays with early and intensive chelation therapy.

Adolescent↗
PubMed2000

A longitudinal study of leptin during development in the male rhesus monkey: the effect of body composition and season on circulating leptin levels.

The objective of this study was to examine longitudinal changes in serum leptin concentrations during development and to correlate those changes with sexual development in male rhesus monkeys housed under natural environmental conditions. Blood samples were drawn from 8 control animals approximately every other month from 10 to 30 mo of age and thereafter monthly through 80 mo of age. Leptin levels declined through the juvenile period until the onset of puberty and were negatively correlated with body weight. Seven of the eight animals became sexually mature during the breeding season of their fourth year of life. Puberty was delayed in the other animal until the subsequent breeding season. There were no significant fluctuations in leptin levels prior to or in association with the pubertal rise in LH and testosterone (T) secretion. During the peripubertal period, levels of leptin varied between 2 and 3 ng/ml. The animal that exhibited delayed puberty had the lowest body weight and highest leptin levels during this period. With the achievement of sexual maturity, leptin levels varied seasonally, with peak levels in the late winter (Jan-Mar) and a nadir in the late summer (Aug-Sept). A late winter rise in leptin was also evident in most of the animals during Years 2 and 3, but not during Year 4. In the fall of Years 5 and 6, the seasonal rise in leptin concentrations lagged 3-4 mo behind the seasonal increase in LH and T. In the fall of Year 5, but not thereafter, leptin levels were positively related to percent body fat and negatively correlated with lean body mass. The data do not support the hypothesis that increasing leptin concentrations trigger the onset of puberty in the male rhesus monkey. During the juvenile period and after sexual maturation, but not during the peripubertal period, leptin secretion varied with season in the animals; but the environmental factors that cue or drive this rhythm remain to be determined.

Aging↗
PubMed1993

Diagnosis and treatment of osteoporosis.

Risk of osteoporotic fracture is dependent on peak bone mass achieved at skeletal maturity and subsequent bone loss. Accordingly, reduction in this risk can be achieved by maximizing the peak bone mass, preventing subsequent bone loss, or increasing bone density in patients with established osteoporosis. Recent studies in twins have shown that although peak bone mass is strongly genetically determined, it can be influenced by dietary calcium intake and physical activity. Bone mass gain is rapid during puberty, and delayed puberty may alter peak bone mass. Estrogen therapy can prevent bone loss in postmenopausal women. Bone densitometry can be used to select patients who are suitable for therapy and enhance compliance; however, screening is not justified. Treatment of established bone loss remains a problem, although recent studies of estrogen, vitamin D, and bisphosphonates are encouraging.

Bone Development↗
PubMed1994

Longitudinal growth in children and adolescents with inflammatory bowel disease.

Weight and height were followed longitudinally from birth to adulthood in children with inflammatory bowel disease living in a defined area of Sweden, 1983 through 1987; 124 children out of a possible 128 were studied. During the year preceding diagnosis, height growth velocity was significantly reduced in both ulcerative colitis and Crohn's disease. At the time of diagnosis, weight-for-height was subnormal in both children with ulcerative colitis (p < 0.05) and those with Crohn's disease (p < 0.001), while height was reduced only in children with Crohn's disease (p < 0.05). Weight for height was normalized within one year in ulcerative colitis, after the initiation of medical therapy. In Crohn's disease, weight-for-height improved during the years following diagnosis but height remained subnormal. Children with ulcerative colitis reached puberty at the normal time and their final heights became normal. In children with Crohn's disease, puberty was delayed (p < 0.001) and final height was reduced (p < 0.01). The impact of inflammatory bowel disease on growth was substantial, but it was smaller in this study than in many other published studies. The possible reasons for this difference include use of population-based material and a relatively short interval between the first symptoms and the start of treatment. Our findings indicate that, although final height was significantly reduced in children with Crohn's disease, delayed puberty reduced the negative effects on permanent adult height, to a certain extent compensating for the period of poor growth earlier in life.

Adolescent↗
PubMed1993

Bone mineralization in childhood and adolescence.

Prevention of osteoporosis depends on establishing adequate peak bone mass in the first two decades of life. Achievement of this goal requires an understanding of factors that promote skeletal health. Genetic factors are important determinants of adult bone mass, but nonheritable variables, including body mass, calcium nutriture, sex steroids, and activity can strongly influence whether maximal bone mineral is achieved. Acquisition of bone mineral continues throughout childhood and adolescence, reaching a lifetime maximum in early adulthood. Adolescence is a particularly critical time for bone mineral accretion as more than half of the bone calcium is normally laid down during the teen years. Chronic illness, malnutrition, or endocrine deficiencies at this age may result in profound deficits in bone mass, which may not be fully reversible. These risk factors contribute to the osteopenia associated with anorexia nervosa, exercise-induced amenorrhea, delayed puberty, Turner's syndrome, and growth hormone deficiency.

Adolescent↗