Browsing by Subject "PUBERTY"

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  • Harjutsalo, Valma; Maric-Bilkan, Christine; Forsblom, Carol; Groop, Per-Henrik; FinnDiane Study Grp (2016)
    Aims/hypothesis The aim of this study was to evaluate the relationship among age at onset of diabetes, age at onset of menarche and risk of diabetic nephropathy and laser-treated retinopathy in type 1 diabetes. Methods Data related to age at menarche were collected through questionnaires and were available for 1,304 women who participated in the Finnish Diabetic Nephropathy Study (FinnDiane). A possible association between age at menarche and diabetic nephropathy and retinopathy was investigated. Results There was an inverse relationship between the age at onset of diabetes and age at menarche: the younger the age at onset of diabetes, the higher the age at menarche (p <0.0001). A non-linear relationship between the age of menarche and risk of diabetic microvascular complications was found in patients with diabetes onset before menarche, but there was no such association in patients with diabetes onset after menarche. Women with delayed menarche (> mean age+ 2 years) had a 2.30 (95% CI 1.27, 4.17; p <0.006) times higher risk of nephropathy compared with the women who underwent menarche at the mean age +/- 2 years. Delayed menarche also increased the risk of retinopathy (OR 2.34 [95% CI 1.36, 4.01]). After excluding patients with nephropathy, the OR for retinopathy was 2.11 (95% CI 1.15, 3.90). Earlier menarche (<mean age-2 years) did not have any effect on this risk. Conclusions/interpretation Delayed menarche was associated with an increased risk of diabetic nephropathy and retinopathy, whereas early menarche was not. Delayed menarche may be used as a new tool to identify women at risk of diabetic microvascular complications.
  • Leinonen, Jaakko T.; Surakka, Ida; Havulinna, Aki S.; Kettunen, Johannes; Luoto, Riitta; Salomaa, Veikko; Widen, Elisabeth (2012)
  • Teivaanmaki, T.; Cheung, Y. B.; Maleta, K.; Gandhi, M.; Ashorn, P. (2018)
    BackgroundDepressive conditions cause about 25 million disability adjusted life years in low-income countries annually. The incidence of depression rises after puberty, and the young age distribution in these countries may cause a high burden of adolescent depression. We aimed to assess the prevalence of reported depressive symptoms among rural adolescents in Malawi. Additionally, we assessed the association between birth weight, childhood growth, gender, and pubertal maturity and depressive symptoms. MethodsWe followed 767 children from the foetal period until 15-years-of-age. We used the Short Mood and Feelings Questionnaire (SMFQ) to examine reported depressive symptoms at 15years. The questionnaire was translated to local language and then back-translated until inaccuracies were not detected. Anthropometry was conducted at 1, 24, 120, and 180months of age. We performed regression models with imputed data to assess associations between the independent variables and depressive symptoms. As a sensitivity analysis, we ran the same regression models with participants with no missing data. ResultsA total of 523 participants were seen at 15years. The mean SMFQ score was 15 with 90% (95%CI 87-92%) of the participants scoring 11 points, the traditional cut-off for screening for depression. Birth weight, growth, gender, and pubertal maturity were not associated with the SMFQ score in the primary imputed analyses. In the sensitivity analysis, birth weight was associated with the SMFQ score in all models. ConclusionsThe prevalence of reported depressive symptoms was high among the studied population. It is uncertain how well the traditional cut-off of 11 points identifies children with clinically significant depressive symptoms in our sample. Our data do not support a hypothesis of an association between growth, gender, or pubertal maturity and depressive symptoms. Nevertheless, our results highlight the importance of the awareness of mental health problems in low-income countries.
  • Nurmio, Mirja; Asadi-Azarbaijani, Babak; Hou, Mi; Kiviö, Ronja; Toppari, Jorma; Tinkanen, Helena; Laine, Tiina; Oskam, Irma C.; Jahnukainen, Kirsi (2022)
    Simple Summary Cryopreservation of ovarian tissue is a promising technique for fertility preservation in cancer patients at increased risk for subfertility. The International Guideline Harmonization Group recommends ovarian tissue cryopreservation for children and young adults before therapy with cumulative doses of alkylating agent at or above 6000-8000 mg/m(2). A therapy that poses a high risk of subfertility is rarely the first-line therapy and many of the patients have already undergone several regimens of chemotherapy. The aim of our study was to assess the effects of chemotherapy exposures on the quality of cryopreserved ovarian tissue. We confirmed the harmful effects of alkylating agents on xenografted ovarian tissue and suggest that cumulative doses which are not regarded as an indication for fertility preservation in children and young adult may decrease the quality of cryopreserved follicles. Purpose and methods: To elucidate whether previous cancer treatment affects graft recovery and follicle numbers, morphology, and development in grafts, cryopreserved ovarian biopsies obtained from 18 cancer patients aged 1-24 years with and without exposure to chemotherapy were xenografted as 1 mm(3) fragments to immunodeficient mice for 22 weeks with exogenous stimulation. Results: Graft recovery showed no association with chemotherapy exposure, pubertal stage, or leukemia contamination. Total follicle number per recovered graft varied between 0 and 1031 in the chemotherapy-exposed and between 0 and 502 in the non-chemotherapy-exposed group. Atretic follicles formed the largest proportion of the follicle pool in chemotherapy-exposed grafts. Increased atresia correlated with exposure to alkylating agents (mean +/- SD 8866.2 +/- 9316.3 mg/m(2)) but not with anthracyclines, pubertal stage, or leukemia contamination. Conclusion: The observation confirms the harmful effects of alkylating agents on ovarian tissue. Therapy at the median cumulative dose of 8866 mg/m(2) leads to the decreased quality of cryopreserved ovarian follicles in children and young adults.
  • Metsäniitty, Mari; Varkkola, Olli; Waltimo-Siren, Janna; Ranta, Helena (2017)
    In Finland, forensic age assessment is strictly regulated by legislation. According to the Aliens Act (301/2004) and the amendment of the Act (549/2010), the police authorities, the frontier guard authorities, and the immigration authorities have the right to refer asylum seekers to the University of Helsinki, Department of Forensic Medicine, for age assessment. These assessments are especially performed to solve if the person is of major age, the cutoff being 18 completed years. The forensic age assessment is largely based on dental development, since the special permit of the Radiation and Nuclear Safety Authority (STUK) to the Department of Forensic Medicine of the University of Helsinki, allowing the use of ionizing radiation for non-medical purposes, includes dental and hand X-rays. Forensic age assessment is always performed by two forensic odontologists. In 2015, the total number of forensic age assessment examinations was 149, and the countries of origin of the asylum seekers were most commonly Iraq, Afghanistan, and Somalia. The current legislation on forensic age assessment has been well received and approved. Radiological and other examinations can be performed in different parts of Finland, but the forensic odontologist at the University of Helsinki is always involved in the process and ensures joint quality standards for the forensic age assessment.
  • Iivonen, Anna-Pauliina; Kärkinen, Juho; Yellapragada, Venkatram; Sidoroff, Virpi; Almusa, Henrikki; Vaaralahti, Kirsi; Raivio, Taneli (2021)
    Patients with deletions on chromosome 9q31.2 may exhibit delayed puberty, craniofacial phenotype including cleft lip/palate, and olfactory bulb hypoplasia. We report a patient with congenital HH with anosmia (Kallmann syndrome, KS) and a de novo 2.38 Mb heterozygous deletion in 9q31.2. The deletion breakpoints (determined with wholegenome linked-read sequencing) were in the FKTN gene (9:108,331,353) and in a non-coding area (9:110,707,332) (hg19). The deletion encompassed six protein-coding genes (FKTN, ZNF462, TAL2, TMEM38B, RAD23B, and KLF4). ZNF462 haploinsufficiency was consistent with the patient's Weiss-Kruszka syndrome (craniofacial phenotype, developmental delay, and sensorineural hearing loss), but did not explain his KS. In further analyses, he did not carry rare sequence variants in 32 known KS genes in whole-exome sequencing and displayed no aberrant splicing of 15 KS genes that were expressed in peripheral blood leukocyte transcriptome. The deletion was 1.8 Mb upstream of a KS candidate gene locus (PALM2AKAP2) but did not suppress its expression. In conclusion, this is the first report of a patient with Weiss-Kruszka syndrome and KS. We suggest that patients carrying a microdeletion in 9q31.2 should be evaluated for the presence of KS and KS-related features.
  • Leinonen, Jaakko T.; Chen, Yu-Chia; Pennonen, Jana; Lehtonen, Leevi; Junna, Nella; Tukiainen, Taru; Panula, Pertti; Widen, Elisabeth (2019)
    Genome-wide association studies (GWAS) have recurrently associated sequence variation nearby LIN28B with pubertal timing, growth and disease. However, the biology linking LIN28B with these traits is still poorly understood. With our study, we sought to elucidate the mechanisms behind the LIN28B associations, with a special focus on studying LIN28B function at the hypothalamic-pituitary (HP) axis that is ultimately responsible for pubertal onset. Using CRISPR-Cas9 technology, we first generated lin28b knockout (KO) zebrafish. Compared to controls, the lin28b KO fish showed both accelerated growth tempo, reduced adult size and increased expression of mitochondrial genes during larval development. Importantly, data from the knockout zebrafish models and adult humans imply that LIN28B expression has potential to affect gene expression in the HP axis. Specifically, our results suggest that LIN28B expression correlates positively with the expression of ESR1 in the hypothalamus and POMC in the pituitary. Moreover, we show how the pubertal timing advancing allele (T) for rs7759938 at the LIN28B locus associates with higher testosterone levels in the UK Biobank data. Overall, we provide novel evidence that LIN28B contributes to the regulation of sex hormone pathways, which might help explain why the gene associates with several distinct traits.
  • Filatova, Svetlana; Upadhyaya, Subina; Kronstrom, Kim; Suominen, Auli; Chudal, Roshan; Luntamo, Terhi; Sourander, Andre; Gyllenberg, David (2019)
    Background: Knowledge of time trends for depression is important for disease prevention and healthcare planning. Only a few studies have addressed these questions regarding the incidence and cumulative incidence of diagnosed depression from childhood to early adulthood and findings have been inconclusive. Aim: The aim of this national register-based Finnish study was to report the time trends of the age-specific and gender-specific incidence and cumulative incidence of diagnosed depression. Methods: The study sample included all 1,245,502 singletons born in Finland between 1 January 1987 and 31 December 2007 and still living in Finland at the end of 2012. The participants were divided into three cohorts by birth year: 1987-1993, 1994-2000 and 2001-2007. Depression diagnoses (ICD-9: 2961; ICD-10: F32, F33) given in 1995-2012 were available and identified from the Care Register for Health Care. Results: Ten percent of the females and five percent of the males were diagnosed with depression in specialized services by age 25 years. The cumulative incidence of depression by age 15 years rose from 1.8% (95% CI 1.8-1.9) to 2.9% (95% CI 2.8-3.0) in females and from 1.0% (95% CI 1.1-1.2) to 1.6% (95% CI 1.6-1.7) in males when the cohorts born 1987-1993 and 1994-2000 were compared. Conclusions: A larger proportion of young people in Finland are diagnosed with depression in specialized services than before. This can be due to better identification, more positive attitudes to mental health problems and increased availability of the services.