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Results for “Puberty, Delayed”

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PubMedDate not supplied

Two tumors detected by thyroid assessment in two children.

OBJECTIVE: To describe the early detection of two tumors in two children by recognition of unusual features in initial thyroid assessments. METHODS: We present the clinical findings and results of laboratory studies in two children. In addition, we describe RET proto-oncogene studies in one of them. RESULTS: A 14.5-year-old boy was referred for assessment because of short stature in conjunction with lack of physical growth and development. His physical examination was remarkable for height at the 50th percentile (height age, 11.5 years), weight at the 50th percentile (weight age, 13 years), and prepubertal male status. Pertinent laboratory findings were a normal thyroid-stimulating hormone (TSH) level but low free thyroxine (FT4) index. These findings prompted an immediate magnetic resonance imaging study of the head. A parasellar tumor was detected and removed; histopathologic examination revealed that it was a craniopharyngioma. The patient requires lifelong multihormonal therapy for his panhypopituitarism and has responded with physical growth. Our second patient, a 7.5-year-old girl, was referred because of a painless left thyroid nodule of 4 months' duration. Her physical examination was remarkable for (1) upper lip swelling, (2) intermittent rash, and (3) a goiter with painless mobile left and right nodules. Normal levels of TSH and FT4, serum calcitonin of 6,192 pg/mL, and a fine-needle biopsy specimen that stained strongly for calcitonin were obtained at her first clinic visit. A total thyroidectomy was performed and confirmed the presence of medullary thyroid carcinoma. Genetic studies showed that she was positive for the RET multiple endocrine neoplasia IIB mutation. After 4 years of follow-up, the patient had serum calcitonin levels that remained low (<2.2 pg/mL). CONCLUSION: Attention to thyroid physical findings and laboratory studies can promptly lead to correct diagnoses and management of some rare and life-threatening tumors in children.

Adolescent↗
PubMed1993

Pituitary-testicular function in nephropathic cystinosis.

OBJECTIVE: To evaluate reproductive function in patients with cystinosis and in renal transplant recipients without cystinosis. DESIGN: Cross-sectional study. SETTING: Clinical Center, National Institutes of Health. PATIENTS: Ten male patients, 15 to 28 years old, with nephropathic cystinosis and renal allografts formed the study group; 11 renal transplant recipients who had a primary renal disorder other than cystinosis and were matched with study patients for age and renal function served as the control group. MEASUREMENTS: Tanner staging, serum gonadotropin determinations, and testosterone and testosterone-binding globulin assessments. Selected patients also had a human chorionic gonadotropin (HCG) stimulation test, a gonadotropin-releasing hormone (GnRH) stimulation test, and serial sampling for luteinizing hormone (LH). MAIN RESULTS: Although testosterone levels were within normal limits in 7 of 10 patients with cystinosis, the mean testosterone level in patients with cystinosis was 11.5 +/- 2.0 nmol/L compared with 24.2 +/- 3.0 nmol/L in control patients (P < 0.005). No patient with cystinosis reached Tanner stage 5 (full pubertal development), whereas 9 of 11 control patients did. Seven of 10 patients with cystinosis had elevations in LH or follicle-stimulating hormone (FSH) levels, suggesting testicular failure. These patients also had normal LH and FSH responses after GnRH stimulation, increased LH pulse frequency, and reduced testosterone response after HCG stimulation. In comparison, only 3 of 11 control patients had minimally elevated gonadotropin levels, and all 11 had normal testosterone levels. Microscopic testicular examination in one patient showed cystine crystals, germinal dysplasia, increased fibrosis, and Leydig cell hyperplasia. CONCLUSIONS: Abnormalities in the pituitary-testicular axis are common in male patients with cystinosis. These changes appear to be related to the disease cystinosis and not to treated renal failure per se.

Adolescent↗
PubMed1999

Effects of ethanol on leptin secretion and the leptin-induced luteinizing hormone (LH) release from late juvenile female rats.

BACKGROUND: Chronic ethanol (EtOH) exposure lowers serum insulin-like growth factor-1 (IGF-1) and luteinizing hormone (LH) levels and also delays female puberty, similar to the deficits in the reproductive system that occur during leptin deficiency. Leptin administration restores fertility and gonadotropin secretion in the ob/ob mouse and can induce recovery of reproductive function in food-restricted animals. This study assessed the effects of EtOH on serum leptin levels, and whether exogenous leptin administration could restore IGF-1 and LH levels in the EtOH-treated animals. METHODS: In the first study, 29-day-old female rats were divided into control and EtOH-treated groups, each of which received their respective diet regimen for 5 consecutive days. The EtOH-treated animals were subdivided and received an intraperitoneal injection of either leptin (100 microg/0.1 ml) or saline twice daily. Control animals also received intraperitoneal saline injections twice daily. On day 34, animals were killed, and serum leptin, LH, and IGF-1 were measured by RIA. In a second study we assessed the acute effects of a single 3 g/kg dose of EtOH on the ability of leptin to act centrally to induce LH release. For this, leptin (1 microg) was administered via a third ventricular (3V) cannula and blood sampling via jugular cannula. In a third experiment, animals were again subjected to a chronic feeding regimen. When 34 days old, they were killed and the anterior pituitaries removed and incubated in a static incubation system for 60 min to establish basal LH release, then for an additional 60 min in medium containing leptin (10(-7) M). RESULTS: Chronic EtOH exposure lowered serum leptin (p < 0.01), IGF-1 (p < 0.01), and LH (p < 0.05) levels. Leptin administration to EtOH-treated animals did not restore serum IGF-1 levels. This peptide did, however, effectively restore LH levels to normal, but did not advance the timing of puberty. Acute EtOH administration was found to block leptin-induced LH release following central administration of the peptide. Conversely, anterior pituitaries from control and 5-day EtOH-treated animals that were incubated in vitro released (p < 0.01) equal amounts of LH in response to leptin (10(-7) M). CONCLUSIONS: These data demonstrate that EtOH administration not only can suppress peripheral levels of leptin, but also blocks its central action to facilitate LH secretion. Although replacement of leptin can reverse the EtOH-induced suppression of LH by a direct action at the level of the pituitary, it cannot elevate serum IGF-1; a peripheral signal that acts centrally to stimulate LH releasing-hormone (LHRH)/LH release during the juvenile-peripubertal transition period, and thus accelerates the initiation of female puberty. These results demonstrate further the complex actions and interactions of multiple hormones involved in the pubertal process and the vulnerability of their actions to the toxic effects of EtOH.

Age Factors↗
PubMed1999

Congenital hypopituitarism in a 48-year old adult. Natural course, hormonal study and MRI evidence.

A case of Congenital Hypopituitarism (CH) in an untreated 48 yr-old-man is reported. The hormonal studies demonstrated a panhypopituitarism and MR imaging revealed absence of pituitary stalk, small anterior pituitary remnant on the sella floor and ectopic neurohypophysis at the tuber cinereum. The pattern of hormonal responsiveness suggests that CH encompasses findings typical of primary anterior pituitary disease and those of hypothalamic dysfunction.

Age Determination by Skeleton↗
PubMed2000

[Cystic fibrosis. Fertility and reproduction].

Fertility and reproduction are now frequent questions for cystic fibrosis adult patients. Females are sometimes subfertile because of abnormal cervical mucus viscosity or anovulatory cycles. After genetic counseling and evaluation of respiratory prognosis, assisted reproduction can be proposed. Fertility is frequently normal and contraception should be proposed. Oral contraception appears to be safe. Pregnancy in cystic fibrosis women should be undertaken after genetic counseling and clinical evaluation; the prognosis for the mother is not modified for patients with stable pulmonary status and FEV1 up to 30% of predicted with correct nutritional status. Preterm delivery is frequent. Usual therapeutics should be continued unless ursodeoxycholic acid or nonsteroidal antiinflammatory drugs. Usual antipseudomonas antibiotics can be used; pulmonary exacerbations have to be treated early. Almost all cystic fibrosis men are infertile because of congenital bilateral absence of vas deferens (CBAVD). CBAVD can revealed incomplete cystic fibrosis phenotypes associated with specific genotypes. After genetic counseling, intracytoplasmic injection after epididymal puncture can be proposed. In all cases, it is important to evaluate the life prognosis, before pregnancy or paternity and to propose genetic counseling, essentially depending on the genotype of the spouse.

Adult↗
PubMed1998

The effect of platyspondyly and pubertal growth spurt on the stature of patients with beta-thalassaemia major.

OBJECTIVE: To study the effect of the body proportion and pubertal growth spurt on the stature of children with beta-thalassaemia major. METHODS: The height, sitting height, upper to lower segment (U:L) ratio and pubertal development were determined in 71 Chinese children (38 girls and 33 boys) with beta-thalassaemia. The growth patterns of 20 patients with complete growth data between 3 years and final height, were analyzed according to whether they underwent a pubertal growth spurt or not. RESULTS: 27% of the boys and 32% of the girls had a height below the 3rd percentile. About 60% of all the children had a U:L ratio below the 10th percentile for age. Abnormal body proportion was found in patients with or without growth retardation. 34% of the 41 children over the age of 14 years underwent spontaneous puberty. In 28 patients over the age of 16 years, a growth spurt was observed in 46% of the children during spontaneous or induced puberty. The retrospective analysis showed that the height deviation from the mean in adulthood was significantly higher in patients without pubertal growth acceleration than in those with a growth spurt (x = -11.8 cm, s = 7.6 cm vs x = -4.4 cm, s = 4.4 cm; P = 0.02). CONCLUSIONS: An abnormal U:L ratio was commonly observed in patients with beta-thalassaemia major and may be one factor contributing to the short stature of these patients. Abnormal puberty was present in a significant proportion of children and the lack of a pubertal growth spurt was found to be detrimental to adult height.

Adolescent↗
PubMed2002

[Clinical and genetic study of a 46, XX man with occult mosaicism ].

OBJECTIVE: To describe a 46,XX male with a hidden mosaicism. METHOD: Clinical, hormonal and genetic findings are presented. RESULTS: The patient was a normal phenotypic male with a bilateral testicular volume of 10 ml. Hypergonadotropic hypogonadism (elevated serum concentrations of FSH and LH, and normal serum concentration of testosterone) without gynecomastia was found. Final karyotype was a 46,XX/47,XX + mar mosaic, with 3% of studied cells containing an abnormal SRY positive Y chromosome. CONCLUSION: XX males karyotype must include a great number of metaphases in order to ascertain a definitive genetic diagnosis.

Adult↗
PubMed1976

Amenorrhea: a review of forty cases.

A retrospective analysis of the clinical data from 40 patients with amenorrhea has enabled us to reach useful generalizations applicable to the management of this problem. Chromosome studies when puberty is delayed and a thorough pelvic examination when menarche fails to appear at the proper time relative to the sequence of other pubertal events will lead to an early definitive diagnosis in most cases of primary amenorrhea. A schema for the functional categorization of patients with secondary amenorrhea is presented to obviate the necessity of obtaining a needlessly expensive battery of laboratory tests which often yield misleading or uninterpretable data.

Adolescent↗
PubMedDate not supplied

[Specific features of sexual maturation in urban and rural adolescent girls].

Eight hundred and fifteen adolescent girls aged 14 to 17 years who live in Orenburg and rural areas have been examined. The age-specific and regional features of their physical and sexual maturation were studied. Assessment of the findings suggests that there are differences in the processes of physical and sexual development between urban and rural adolescent girls. Early identification of the factors that influence the development of senior schoolgirls will allow one to implement preventive measures to preserve reproductive health in the girls.

Adolescent↗
PubMed2003

[The Noonan syndrome from a pediatric perspective].

Noonan syndrome is a relatively common autosomal dominant condition characterised by cardiac defects, short stature, feeding difficulties during the first year of life, and learning and behavioural problems later in life. The diagnosis is clinical and in 50% of cases it can be confirmed by a mutation in the PTPN11 gene. Studies into the effect of growth hormone treatment on final height have yet to provide any definite conclusions. Therefore, for the time being this treatment should be carried out in a research setting. Early-childhood feeding difficulties are troublesome. However, these disappear spontaneously and do not seem to negatively affect growth. Specific developmental patterns, resulting in behavioural and learning problems (non-verbal learning disability) are frequently encountered and require a specific approach.

Body Height↗
PubMed2003

Subtotal splenectomy for treatment of retarted growth and sexual development associated with splenomegaly.

This communication presents a new alternative for the treatment of retarded growth and sexual development associated with spleno- megaly: subtotal splenectomy, preserving the upper splenic pole supplied only by the splenogastric vessels, to avoid adverse effects of total splenectomy. We performed this procedure associated with central splenorenal shunt or portal-variceal disconnection in 3 teenagers with portal hypertension due to Schistosomia-sis Mansoni, complicated by variceal bleedings. All of them presented retarded growth and sexual development. All patients had uneventful postoperative follow-up, and normal growth and sexual development after the surgery. Subtotal splenectomy should be considered for treatment dwarfism associated with splenomegaly.

Adolescent↗
PubMed1992

[Sex and pituitary hormone secretion in adolescents with osteogenic sarcoma and retarded sexual development].

Basal levels of secretion of total testosterone, estradiol-17 beta, their free, albumin-binding and sex steroid-binding globulin (SSBG)--binding fractions, luteinizing hormone, follicle-stimulating hormone, prolactin and somatotropic hormone were measured in blood serum in the following groups of adolescents: (1) healthy, (2) suffering primary osteogenic sarcoma of the bone, (3) osteogenic sarcoma patients with pubertal retardation, and (4) pubertal retardation. A significant increase in total testosterone fraction, free androgen index and a decrease in blood SSBG level were established in osteogenic sarcoma patients as compared to corresponding controls, irrespective of pubertal status. No difference in the above indexes for estrogens was established between osteogenic sarcoma patients and controls in both pubertal status subgroups. The role of sex steroid hormones, particularly, androgens in the pathogenesis of osteogenic sarcoma is discussed.

Adolescent↗
PubMed1992

Growth and pubertal assessment after treatment in acute leukemia.

To evaluate the effect of leukaemia and its treatment on growth and puberty, we studied retrospectively the serial heights and pubertal development of 37 children with acute leukaemia. The age of diagnosis ranged from 10 months to 13 years, with a duration of follow-up varying from 2 years to 14 years. The SDS (Z score) which reflects the deviation of height measurements from the population mean was used to assess height change at yearly intervals. Pubertal assessment was also made using the Tanner standards. 25 (69%) children showed a falling trend in mean Z scores over a 5 year follow-up period. The difference between the mean Z scores at 0 and 5 years was statistically significant (p < 0.035). However, there was no significant correlation between age of onset of disease and duration of survival with the deviation in the Z score. 11 children did not demonstrate a fall in the Z scores. There were, however, no defined factors such as age of onset, duration of follow-up, and sex distribution which could predict growth failure. Pubertal assessment showed normal development in all children with the pubertal age group (n = 11), except for 3 boys, two of whom had received testicular irradiation.

Acute Disease↗