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PubMed1992

Melatonin secretion during adrenarche in normal human puberty and in pubertal disorders.

The relation between human melatonin secretion and adrenarche was investigated in 113 subjects ages 5.5-17 years. Melatonin nocturnal profile was determined obtaining hourly blood samples from 2000 to 0800 and DHEA-S was measured in pooled plasma of these samples. In 62 normal subjects, melatonin peak by stages of adrenarche was 152.5 +/- 65.4, 125.9 +/- 59.4, and 115.2 +/- 40.7 pg/ml for stages 1, 2, and 3-5, respectively, and the linear trend components were significant; no significant relation remained after partialling the variance associated with age and pubertal stages. In 41 subjects with disorders of pubertal onset, mean melatonin peak by stages of adrenarche was 149.0 +/- 54.4, 194.0 +/- 34.2, and 129.8 +/- 52.2 pg/ml for stages 1, 2, and 3-5, respectively, and the linear trend components were not significant. In seven prepubertal girls with precocious adrenarche, melatonin peak was not significantly different from values in seven normal prepubertal, preadrenarchal girls. The relation between time of melatonin peak and adrenarche was not significant in any of the diagnostic groups. The linear correlation between melatonin peak and DHEA-S was not significant in either adrenarche stage 1 (r = -0.19, n = 41) or stages 3-5 (r = -0.13, n = 23). The results do not support a role for adrenarche in the pineal-puberty relation in humans.

Adolescent↗
PubMed1980

Serum dehydroepiandrosterone (DHA) and sulphate (DHAS) after acute growth hormone therapy.

To test the hypothesis that growth hormone (hGH) may increase adrenal androgen production dehydroepiandrosterone (DHA) and its sulphate (DHAS) concentrations were measured by radioimmunoassay in the serum from 7 children with growth hormone deficiency, 2 of whom had delayed puberty. Two injections of hGH (10 mg) were given 48 h apart and the hormone concentrations measured at 3, 6, 24 and 48h after the first injection, 3, 6, and 24h after the second. Basal DHA levels were positively correlated with age and bone age in 6 of the 7 patients (p less than 0.05). Increment of DHA and DHAS above or below basal at each time interval were calculated. The mean increments were higher (p less than 0.01-0.05) at 3 h after the first injection and at 24h (p lesal DHA concentrations were positively correlated with increments in DHA during the first and second 24h of the test (p less than 0.05). DHAS concentrations showed little change throughout the test for all children. It is suggested that some children with growth hormone deficiency and receptive adrenals, increase their serum DHA concentrations after acute hGH therapy.

Adolescent↗
PubMed1988

Changing pattern of childhood coeliac disease in Finland.

In the Tampere region in Finland, the incidence of childhood coeliac disease was 1:1,096 between 1964 and 1973 and 1:3,214 from 1974 to 1983. The clinical picture of coeliac disease had changed to milder forms, resulting in an upward shift of age at diagnosis. Coeliac disease was found in older children and adolescents, manifesting itself mostly in minor abdominal symptoms, short stature, delayed puberty, anaemia and joint complaints, and in children with diabetes mellitus. Long breast-feeding seemed to postpone the symptoms but the introduction of gluten was of no significance. The low incidence for 1974 to 1983 was thought to be due to the estimated 20 cases born in 1979 to 1983 who were not detected. We do not believe that coeliac disease has disappeared but that it will be found during the next decade in the patients who were not diagnosed in school age and adolescence.

Adolescent↗
PubMedDate not supplied

Changes in coeliac disease behaviour over the years.

We performed a retrospective study of 325 coeliac children (179 females and 146 males, F/M ratio 1:2), diagnosed from 1984 to 1989. The children were divided into two groups; group A were diagnosed between 1984 and 1986 and group B were diagnosed between 1987 and 1989, when the antigliadin antibody test had been introduced in our routine. The data showed a difference between the number of diagnoses in the two groups, 117 in group A versus 208 in group B, with a yearly increment of new cases. In both groups, the onset of the disease occurred within the 2nd year of life, in most cases (group A, 88.9%; group B 89.4%) showing a mode at approximately the 9th month. Diagnosis was made within the 2nd year of life in the majority of cases (group A, 80.3%; group B, 87.4%), showing a mode of approximately the 12th month. In both groups, chronic diarrhoea was the most frequent symptom (75.2% in group A and 70.2% in group B), while minor symptoms, such as isolated short stature, pallor, delayed puberty and others, did not show any important change. We conclude that in Sicily, in recent years, the incidence of coeliac disease has been increasing. The most representative clinical form is the classic one, with onset within the 2nd year of life, and chronic diarrhoea, growth failure and abdominal distention as key symptoms.

Adolescent↗
PubMed2003

Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature.

AIM: To study Wolfram syndrome (WFS) with multidisciplinary consultations and compare the results with the literature. METHODS: Nine patients fulfilled the ascertainment criteria of WFS (insulin-dependent diabetes mellitus and optic atrophy). All patients were evaluated by the departments of paediatrics, ophthalmology, audiology, urology and medical biology. RESULTS: The earliest manifestation of WFS was insulin-dependent diabetes mellitus (at a median age of 6.9 y), followed by optic atrophy (8.9 y), diabetes insipidus (10.2 y) and deafness (10.5 y). Short stature was found in five cases, delayed puberty in two cases and hypergonadotropic hypogonadism in one case. Audiography disclosed hearing loss at high frequency in all patients (100%), but only five patients had clinical subjective hearing problems. Intravenous pyelography revealed hydroureteronephrosis in eight patients. Urodynamics revealed a normal bladder in only one patient. Three patients had a low-capacity, low-compliance bladder, detrusor external sphincteric dyssynergia and emptying problem, while five had an atonic bladder. Ocular findings were optic atrophy, low visual acuity and colour vision defects. Visual field tests revealed concentric and/or peripheral diminution in five patients. Visual evoked potentials were abnormal (reduced amplitude to both flash and pattern stimulation) in seven patients. Cranial magnetic resonance imaging showed mild or moderate atrophy of the optic nerves, chiasm, cerebellum, basal ganglia and brainstem in six patients; there was a partially empty sella in one case. There was no evidence of mitochondrial tRNA(Leu) (UUR) A to G (nucleotide 3243) mutation. CONCLUSION: Wolfram syndrome should be evaluated in a multidisciplinary manner. Some specific and dynamic tests are necessary to make a more precise estimate of the prevalence and median age of the components of WFS. Short stature is a common feature in WFS. Hypogonadism may be hypogonadotropic or hypergonadotropic. Bladder dysfunction does not always present as a large atonic bladder in WFS. A low-capacity, high-pressure bladder with sphincteric dyssynergia is also common.

Adolescent↗
PubMed1998

The morbidity of bone disease in thalassemia.

As thalassemia patients age, bone disease becomes a serious cause of morbidity. The frequency and type of bone disease is affected by the underlying type of thalassemia and its treatment. Problems include rickets, scoliosis, spinal deformities, nerve compression, fractures and severe osteoporosis. In early stages, patients may be asymptomatic but can present with back pain, a limp, dyspnea, neurological emergencies, or sudden fractures. The etiologies are often multifactorial, culminating with increased bone resorption and remodeling. They include hormonal deficiency, bone marrow expansion, nutritional deficiency, or desferal toxicity. Particular risk factors include older patients, low baseline hemoglobin, delayed puberty, hormonal failure, and high iron stores. Nutritional deficiencies may further compound the patient's risk for bone disease. Increasing evidence suggests that these complications and their associated long-term morbidity can be prevented if an annual screening is done, followed by long-term intervention. Patients treated with amino biphosphonates inhibit bone resorption and may demonstrate rapid healing. Intra-nasal calcitonin has also been successful in treating osteopenia. Early use of estrogen and testosterone appears to markedly lower the risk for selective patients. Both transfused and non-transfused patients should be educated about risk factors and early symptoms. All patients should be screened annually for bone disease. Once adolescence occurs, annual testing in selected cases should include bone density studies with X-ray absorptiometry.

Adolescent↗
PubMed1986

Adrenal-mediated endogenous metabolites inhibit puberty in female mice.

While assessing a potential role of adrenal glands in the production of the hitherto unidentified puberty-delaying pheromone of female mice, the urinary volatile profiles of normal and adrenalectomized animals were quantitatively compared. Six components, whose concentrations were depressed after adrenalectomy, were identified: 2-heptanone, trans-5-hepten-2-one, trans-4-hepten-2-one, n-pentyl acetate, cis-2-penten-1-yl acetate, and 2,5-dimethylpyrazine. When these laboratory-synthesized chemicals were added (in their natural concentrations) to either previously inactive urine from adrenalectomized females or plain water, the biological activity was fully restored.

Adrenal Glands↗
PubMed1980

Shwachman's syndrome. A review of 21 cases.

21 patients (10 male, 11 female) aged between 11 months and 29 years with Shwachman's syndrome are reviewed. All patients had exocrine pancreatic insufficiency. Haematological features included neutropenia in 19 (95%), anaemia in 10 (50%), and thrombocytopenia in 14 (70%); one patient developed erythroleukaemia. Severe infections occurred in 17 (85%) from which 3 (15%) died. Only one child exceeded the 3rd centile for height, and growth retardation was particularly evident in the older patients. All had skeletal abnormalities or delayed skeletal maturation, or both. Metaphyseal dyschondroplasia affected 13 of the older patients and was associated with skeletal deformities. Eight of 9 children under 2 1/2 years had rib abnormalities. Respiratory function tests in children under 2 years demonstrated reduced thoracic gas volume and chest wall compliance. Older patients had reduced forced expiratory volume and forced vital capacity. Neurological assessment showed developmental retardation or reduced IQ assessments, or both, in 85% of patients studied. Other neurological abnormalities included hypotonia, deafness, and retinitis pigmentosa. Neonatal problems had been present in 16 (80%) of the patients and 5 were of low birthweights. Hepatomegaly with biochemical evidence of liver involvement occurred in the younger patients and resolved with age. Other associated features included dental abnormalities, renal dysfunction, an icthyotic maculopapular rash in 13 (65%), delayed puberty, diabetes mellitus, and various dysmorphic features. These findings stress the diverse manifestations of the syndrome and extend knowledge on a number of aspects. Sibship segregation ratios support an autosomal mode of inheritance and an hypothesis for the pathophysiological basis of this syndrome is advanced.

Adolescent↗
PubMed1983

Ultrasonography of the pelvic organs in prepubertal and postpubertal girls.

Reference curves for the growth of the uterus and ovaries were established for prepubertal and postpubertal girls by examining 34 healthy schoolgirls of age 7, 10, 13, and 17 years by grayscale ultrasound. Uterine volume increased from mean 0.9 cm3 at 7 years to 53 cm3 at 17 years. The ovaries could not be detected by ultrasound in girls of 7 years, but ovarian volume increased from mean 0.7 cm3 at 10 years to 5.8 cm3 at 17 years. There was good correlation between the Tanner score and uterine and ovarian volumes (r = 0.91 and 0.82 respectively). To test the reference curve, the uterine volume was assessed in 10 girls with abnormal sexual development. Five girls with precocious puberty had values greater than mean + 2 SD and 5 girls with primary amenorrhoea had values less than mean - 2 SD. Good reference values for ovarian and uterine size are necessary before ultrasound can be used to evaluate these organs in children with abnormal development of the reproductive system.

Adolescent↗
PubMed1984

Cleft palate and gonadotrophin deficiency.

A boy who had previously had a cleft lip and palate repaired and bilateral orchiopexies presented at 16 years of age with delayed puberty. Isolated gonadotrophin deficiency and testicular hyporesponsiveness to human chorionic gonadotrophin were found. The possibility of bilateral cryptorchidism due to gonadotrophin deficiency should be considered in boys with either cleft lip or palate, or both.

Adolescent↗
PubMed1974

Plasma testosterone and testosterone binding affinities in men with impotence, oligospermia, azoospermia, and hypogonadism.

Mean plasma testosterone levels (+/- S.D.), using Sephadex LH-20 and competitive protein binding, were 629 +/- 160 ng/100 ml for a group of 27 normal adult men, 650 +/- 205 ng/100 ml for 27 impotent men with normal secondary sex characteristics, 644 +/- 178 ng/100 ml for 20 men with oligospermia, and 563 +/- 125 ng/100 ml for 16 azoospermic men. None of these values differ significantly. For 21 men with clinical evidence of hypogonadism the mean plasma testosterone (+/- S.D.), at 177 +/- 122 ng/100 ml, differed significantly (P < 0.001) from that of the normal men.The mean testosterone binding affinities (as measured by the reciprocal of the quantity of plasma needed to bind 50% of (3)H-testosterone tracer) were similar for normal, impotent, and oligospermic men. Though lower for azoospermic men the difference was not significant (P >0.1). For 12 of the 16 hypogonadal males the testosterone binding affinity was normal, but raised binding affinities, similar to those found in normal adult females or prepubertal boys (about twice normal adult male levels), were found in four cases of delayed puberty. These findings help to explain why androgen therapy is usually useless in the treatment of impotence.

Adult↗
PubMed1992

Molecular diagnosis of Turner's syndrome.

Turner's syndrome is a common disorder which occurs in around 1/3000 live births in girls. Diagnostic use of polymorphic DNA markers for the X chromosome could help to reduce the number of time consuming karyotype analyses needed. The M27 beta probe maps on the X chromosome to Xcen-Xp11-22 and in 83% of female subjects detects heterozygosity with multiallelic polymorphism. In Southern blotting, a single X chromosome yields a single hybridisation band. In this study, genomic DNA was extracted from leucocytes of 49 patients with Turner's syndrome (karyotypes: 45,XO, n = 29; 45,XO/46,XX, n = 4; 46,Xi(Xq), n = 1; 45,XO/46,Xi(Xq), n = 4; 45,XO/46,Xr(X), n = 4; 45,XO/46,XY, n = 4; 46,XXp-, n = 3), digested with EcoRI or HindIII, and analysed by Southern blotting. The molecular data for each patient were compared with DNA controls (homozygous 46,XX, heterozygous 46,XX and 46,XY DNA). A single band of reduced intensity compared to homozygous 46,XX control DNA was seen in 41 cases. Two hybridisation bands of different intensities were seen in four patients, in one of whom mosaicism was suspected on the basis of molecular analysis, despite a 45,XO karyotype. In four cases, Turner's syndrome failed to be detected: one 45,XO/46,XX mosaicism with only 4% of 45,XO cells and three distal Xp deletions. DNA analysis appears to be a useful and rapid tool in screening for Turner's syndrome and could be an alternative to cytogenetic analysis in diagnosing the disorder when severe growth retardation or delayed puberty are not accompanied by a Turner phenotype.

Blotting, Southern↗
PubMed1994

Mulvihill-Smith syndrome: case report and review.

We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice. Tympner et al had assumed that the patient had a new syndrome of "progressive combined immunodeficiency and ectomesodermal dysplasia". We show here that the condition is identical to the Mulvihill-Smith syndrome (McKusick 176690), a progeroid disorder described in four or possibly five sporadic cases to date. We describe his clinical progress up to the age of 20 years. Our patient suffered from severe viral infections, allergic rhinitis and conjunctivitis, delayed puberty, visual loss, modest achievement in high school, and reactive depression. The immunological, facioskeletal, and dental abnormalities are presented in detail.

Abnormalities, Multiple↗
PubMed2005

Very long-term follow-up of girls with early and late menarche.

Short- and long-term psychosocial effects of precocious or early normal puberty are probably more important for individuals than the moderate losses in final height they experience. Despite this, pediatric endocrinologists have focused much more on final height than psychosocial outcomes. As a surrogate for long-term follow-up studies of girls with precocious puberty, we have reviewed the results of a very long-term study of physical and psychosocial development of girls with normal early puberty. Results revealed that at age 15-16, girls with menarche before age 11 (early) were more norm-breaking, including being delinquents. In addition, they had earlier advanced sexual experiences. By adult age, there were no differences in psychosocial adjustment between the early- and late-developed women. Thus, the effects of early pubertal timing for psychosocial problems seem to be adolescent-limited. At ages 27 and 43, early-developed women had lower academic education. Regarding somatic development, at age 43, women with early menarche were shorter and heavier, had worse physical fitness and dieted more frequently compared to other women. There was no difference in quality of life. In searching for reasons for the antisocial behaviors in adolescence and the lower educational levels among early developers, early heterosexual relations seem to be the most crucial.

Adolescent↗
PubMed1986

Periventricular metastases of a primary intracranial alpha-fetoprotein-producing germ cell tumor.

Periventricular subependymal lesions were found on CT scan in a young man with growth failure, diabetes insipidus, mental deterioration, and hypogonadism with delayed puberty. An initial very good response to radiotherapy was followed a few months later by a relapse, presenting as a very large tumor in the base of the frontal lobes. Serum alpha-fetoprotein at the time of the relapse was very elevated suggesting that the tumor was largely composed of an endodermal sinus tumor component, which was confirmed at autopsy. The purpose of this report is to stress the importance of the use of tumor markers in a particular clinical and neuroradiological setting.

Adolescent↗
PubMed1992

Effect of recombinant human growth hormone in a postpediatric hemodialysis patient with delayed growth.

We present an 18-year-old patient who has been on renal replacement therapy since the age of 11. He had growth retardation and delayed puberty, with a bone age of 13.6 years. Treatment with human recombinant growth hormone (rhGH) resulted in a clearcut increase in height and lean body mass. We emphasize that rhGH treatment could be tried even at a postpediatric age, provided bone radiology suggests that further growth is possible.

Adolescent↗
PubMed1978

Endocrine studies in primary hypogonadism.

Two 15-year-old boys with primary hypogonadism had evaluation of their hypothalamic-pituitary-gonadal axis. Testicular biopsies and chromsomal studies were also performed. Both patients presented with delayed puberty and short stature and had prepubertal LH, FSH and testosterone concentrations. Serial 24-hour frequent-interval blood studies over a 2-year period in one patient (R.F.) showed a gradual progression from a normal early pubertal LH secretory pattern to one characteristic of 'primary' testicular failure. The testicular biopsies showed prepubertal tests with no significant germinal cell maturation. Although both patients had some somatic stigmata of Noonan's syndrome, they had different karyotypes (XY and xyq-). These studies show that elevated levels of LH and FSH in primary hypogonadism syndrome may not become apparent until after the onset of CNS puberty.

Adolescent↗
PubMed1987

Short-term pulsatile administration of luteinizing hormone releasing hormone in male adolescents with multiple idiopathic pituitary hormone deficiencies.

In order to define both level and severity of defect in patients with idiopathic multiple pituitary hormone deficiencies (MPHD) and to find out which patient might benefit from pulsatile LHRH substitution therapy, the effect of short-term pulsatile LHRH infusion in 6 affected male adolescents was studied. Controls were 9 boys with constitutional delay of puberty (CD). During a spontaneous nocturnal plasma profile LH and FSH levels were prepubertal with little evidence of pulsatile secretory LH activity in all MPHD patients. During short-term pulsatile LHRH stimulation (36 h), however, all showed a significant rise in mean LH and FSH levels (p less than 0.0001). Linear regression analysis revealed significant continuous increases of FSH (p less than 0.001) in all patients and of LH (p less than 0.01) in all but one patient. These changes were not accompanied by an increase of testosterone, androstenedione and DHAS levels. Since all MPHD patients showed steadily increasing gonadotropin levels if stimulated in a pulsatile manner, we conclude that the defect might only in part be located at the pituitary level. Long-term pulsatile substitution therapy with LHRH is likely to be successful in these patients as has been demonstrated in patients with known hypothalamic defect.

Adolescent↗