Search results for " puberty"

Disease expression in women with hereditary angioedema

2008

Udgivelsesdato: 2008-Jun-11 OBJECTIVE: Fluctuations in sex hormones can trigger angioedema attacks in women with hereditary angioedema. Combined oral contraceptive therapies, as well as pregnancy, can induce severe attacks. The course of angioedema may be very variable in different women. STUDY DESIGN: Within the PREHAEAT project launched by the European Union, data on 150 postpubertal women with hereditary angioedema were collected in 8 countries, using a patient-based questionnaire. RESULTS: Puberty worsened the disease for 62%. Combined oral contraceptives worsened the disease for 79%, whereas progestogen-only pills improved it for 64%. During pregnancies, 38% of women had more attacks, …

Precocious puberty in Costello syndrome: case report.

2012

Background: Costello syndrome(CS) is a rare autosomal dominant genetically transmitted disease, with: macrocephaly, coarse face with hypertelorism, epicanthal folds, prominent eyes, short nose, low-set ears, large mouth, short stature and failure to thrive, curly hairs, macro glossy, short neck, hyperkeratosis, hyperpigmentation, papillomata around the anus, mouth and nares, thick and loose skin of the hands and feet, cardiomyopathy, mental retardation, increased neoplastic risk. The majority of patients (80-90%) with CS have de novo heterozygous mutations in the HRAS gene (11p15.5). Sporadic cases with GH deficiency are described, even if GH treatment is non clearly associated to a signifi…

Lifecycle of Polycystic Ovary Syndrome (PCOS): From In Utero to Menopause

2013

Context: Polycystic ovary syndrome (PCOS) is diagnosed during the reproductive years when women present with 2 of 3 of the following criteria: 1) irregular menstrual cycles or anovulation, 2) hyperandrogenism, and 3) PCO morphology. However, there is evidence that PCOS can be identified from early infancy to puberty based on predisposing environmental influences. There is also increasing information about the PCOS phenotype after menopause. The goal of this review is to summarize current knowledge about the appearance of PCOS at different life stages and the influence of reproductive maturation and senescence on the PCOS phenotype. Evidence: PubMed, the bibliography from the Evidence-Based …

DOWN REGULATION OF LYMPHOCYTES APOPTOSIS IN GIRLS WITH PRECOCIOUS PUBERTY

2011

The effects of sexual hormones secretion in children with precocious puberty induce significant somatic and psychological changes, with systemic implications on several organs and tissues. Besides immune system and blood cells are involved in these changes. Recent studies on mice lymphocytes have demonstrated a protection of estrogens against apoptosis Fas-FasL pathway. These data could partially elucidate why autoimmune diseases are more frequent in females adolescents, whereas males have higher mortality associated with infectious diseases. We studied ten girls (age: 4-7 years) affected by idiopathic precocious puberty, with pubertal stage B3-PH3-4. All presented increased bone age/chrono…

CD 95 and TRAIL induced lymphocytes apoptosis in girls with precocious puberty.

2008

Prospective analysis of the influence of sport and educational factors on the prevalence and initiation of smoking in older adolescents from Croatia

2017

The prevalence of smoking among Croatian adolescents is alarmingly high, but no previous study has prospectively examined the sport- and academic-factors associated with smoking and smoking initiation. This study aimed to prospectively examine the associations between scholastic (educational) achievement and sport factors and smoking in 16- to 18-year-old adolescents. This two-year prospective cohort study included 644 adolescents who were 16 years of age at baseline (46% females). Baseline testing was implemented at the beginning of the 3rd year of high school (September 2014) when participants were 16 years old. Follow-up testing was completed at the end of the fourth year of high school,…

Differenzierung zwischen prämaturer Thelarche und Pubertas praecox anhand klinischer, hormoneller und radiologischer Befunde

2008

In a retrospective study of 39 girls (aged 10 months to 7 10/12 years) with premature breast development criteria for distinguishing between premature thelarche and precocious puberty were analysed. Serum estradiol levels and bone age were determined and a test with luteinizing hormone-releasing hormone (LHRH) performed (inclusion criteria). On the basis of the LHRH test and bone age, premature thelarche was diagnosed in 29 patients and precocious puberty in ten: while those with premature thelarche had a follicle-stimulating hormone (FSH) pattern of rise, in those with precocious puberty the rise in gonadotropin was of the LH type. The LH/FSH ratio 30 min after stimulation was 1 (median 2.…

Clinical and metabolic findings in a 6-year-old boy with a Leydig cell tumour

2011

Aim:  To analyse the urinary steroid metabolome in a boy who had true precocious puberty after a Leydig cell tumour. Method:  Case report and detailed description of clinical and metabolic findings in a 7-year-old-boy with a Leydig cell tumour. Results:  Before surgery, the urinary steroid metabolome showed an activation of an alternative route to gonadal androgens independent of dehydroepiandrosterone (DHEA). After surgery, the boy entered true precocious puberty. Under leuprolide acetate treatment, clinical and laboratory findings normalized. Conclusion:  Central precocious puberty after precocious pseudopuberty may be more common than expected and should be considered in children with pe…

Fertility in McCune Albright syndrome female: A case study focusing on AMH as a marker of ovarian dysfunction and a literature review.

2021

Abstract Background The molecular basis of McCune Albright syndrome (MAS) is a recurrent GNAS Postzygotic gain of function sporadic mutation, resulting in a mosaic disease. Most of girls present precocious puberty, caused by the development of recurrent ovarian cysts with autonomous Hyperestrogenic stimulation. After menarche, the majority of patients with ovarian GNAS mutation have menstrual disturbances and infertility. Objectives We wanted to focus on the fertility of MAS females and propose an appropriate management, by a detailed case report and an exhaustive review of the literature on fertility and pregnancy in MAS females. Results We present the case of a 29-year-old MAS female, who…

COL1A1 Sp1 polymorphism associates with bone density in early puberty.

2006

Optimal acquisition of bone mass in puberty is a key determinant of the lifetime risk of osteoporosis and has a strong genetic basis. We investigated the relationship between the COL1A1 Sp1 polymorphism and BMD in early puberty, and how the genotypes relate to bone size and geometry as well as bone turnover and material properties in 247 10- to 13-year-old girls. Bone properties were measured using DXA, pQCT, and ultrasound. Also, serum P1NP, OC, B-ALP, and TRACP 5b were assessed. Our results showed that girls with the TT genotype had significantly lower BMC and BMD of the total body, lumbar spine, and proximal femur, as well as BUA at the calcaneus, than those with the GT and GG genotype. …