A5043393873- Birth, Development, and Health
- Sexual Differentiation and Disorders
- Hormonal and reproductive studies
- Growth Hormone and Insulin-like Growth Factors
- Hormonal Regulation and Hypertension
- Obesity, Physical Activity, Diet
- Thyroid Disorders and Treatments
- Ovarian function and disorders
- Analytic and geometric function theory
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Adrenal Hormones and Disorders
- Pregnancy and preeclampsia studies
- Stress Responses and Cortisol
- Neonatal Health and Biochemistry
- Nonlinear Partial Differential Equations
- Body Composition Measurement Techniques
- Diet and metabolism studies
- Adipose Tissue and Metabolism
- Health and Lifestyle Studies
- Research in Social Sciences
- Estrogen and related hormone effects
- Hypothalamic control of reproductive hormones
- Neonatal Respiratory Health Research
- Diabetes Management and Research
- Algebraic and Geometric Analysis
University of Eastern Finland
2015-2024
Kuopio University Hospital
2015-2024
University of Jyväskylä
2019-2020
University of Helsinki
2000-2020
Universidad Autónoma de Madrid
2016-2019
Statistics Finland
2019
Finland University
2018
Seinäjoki University of Applied Sciences
2016
Universidad Carlos III de Madrid
2016
Institute of Mathematical Sciences
2016
Ovarian hyperandrogenism, a key feature of polycystic ovary syndrome, is preceded by precocious pubarche (PP) (pubic hair < 8 yr) in some populations. We hypothesized that this earlier presentation may relate to increased androgen sensitivity, indicated receptor gene CAG repeat length. This polymorphism was genotyped 181 Barcelona girls (age, 10.9 yr; range, 4–19 who had presented with PP, and 124 control girls. PP shorter mean number than controls (PP vs. controls: mean, range: 21.3, 7–31...
Premature pubarche (PP), the main clinical manifestation of premature adrenarche (PA), has been associated with insulin resistance and dyslipidemia in selected populations.Our aim was to determine prevalence childhood metabolic syndrome (cMBS) study its components prepubertal Northern European girls PA.We conducted a cross-sectional on 63 PA (32 PP = PP-PA, 31 without nonPP-PA) 80 healthy age-matched control girls. A standard 2-h oral glucose tolerance test sampling performed. Plasma lipids...
Summary Objective and methods We compared I n B ody 720 segmental multifrequency bioimpedance analysis ( SMF ‐ BIA ) with L unar P rodigy A dvance dual‐energy X ‐ray absorptiometry DXA in assessment of body composition among 178 predominantly prepubertal children. Segmental agreement compartments was carried out, inter‐relationships anthropometric other measures were defined. Moreover, the relations different reference criteria for excess fat evaluated. Results The prevalence varies greatly...
Congenital hypothyroidism (CH) is defined as the lack of thyroid hormones at birth. Mutations in least 15 different genes have been associated with this disease. While up to 20% CH cases are hereditary, majority sporadic unknown etiology. Apart from a monogenic pattern inheritance, multigenic mechanisms suggested play role CH. The genetics has not studied Finland so far. Therefore, sequencing candidate was performed Finnish patient cohort both familial and CH.A targeted next-generation (NGS)...
Defects in genes mediating thyroid hormone biosynthesis result dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations SLC26A7 6 unrelated families with goitrous CH and show that also occurs Slc26a7-null mice. In both species, the gene is expressed predominantly gland, loss of function associated impaired availability iodine for synthesis, partially corrected mice by supplementation. a member same transporter family as SLC26A4 (pendrin), an anion...
Adrenarche refers to the onset of increased production adrenal androgens in childhood leading variably clinical signs androgen action. The prevalence and presentation adrenarche prepubertal girls boys is not well known.Our objective was examine a population sample children aged less than 9 years.This cross-sectional study included (209 228 boys; median age 7.6 [range 6.8-8.9] years) taking part Physical Activity Nutrition Children (PANIC) Study.The assessed.The any sign action higher (26.1%...
<h3>Background</h3> Mutations in <i>GLI2</i> have been associated with holoprosencephaly (HPE), a neuroanatomic anomaly resulting from incomplete cleavage of the developing forebrain, and an HPE-like phenotype involving pituitary anomalies polydactyly. <h3>Objective</h3> To characterise genotypic phenotypic findings individuals variants clarify clinical loss-of-function mutations. <h3>Methods</h3> Through National Institutes Health collaborating centres, ∼400 HPE spectrum disorders,...
Mutations in the X-linked androgen receptor (AR) gene underlie complete insensitivity syndrome (CAIS), most common cause of 46,XY sex reversal. Molecular genetic diagnosis CAIS, however, remains uncertain patients who show normal coding region AR. Here, we describe a novel mechanism AR disruption leading to CAIS two sisters. We analyzed whole-genome sequencing data for pathogenic variants outside region. Patient fibroblasts from genital area were used cDNA analysis and protein...
OBJECTIVE There are only limited data on bone mineral density (BMD) in adult patients with 21‐hydroxylase deficiency (21‐OHD). We have defined the effects of different glucocorticoid substitution therapies BMD and body composition these patients. DESIGN Cross‐sectional. PATIENTS Thirty‐two 21‐OHD. MEASUREMENTS Patients were examined auxologically biochemically. was left femoral neck lumbar vertebrae 2–4 (L2–4) dual X‐ray absorptiometry. The results compared national reference data. RESULTS...
A nationwide search of patients with classical 21‐hydroxylase deficiency (21‐OHD) was performed in Finland to determine the long‐term outcome disease. In total, 108 were found. Fifty‐four (50%, 31F, 23M) had a salt‐wasting form and another 54 29F, 25M) simple virilizing 21‐OHD. significant number severe complications suggestive glucocorticoid There five deaths (4.6% all) possibly connected cortisol deficiency. Ten additional (9.3% been acutely admitted 14 times all due symptoms These...
Summary Background In the exercise testing measures of cardiorespiratory fitness need to be scaled by body size or composition enable comparison between individuals. Traditionally used weight‐proportional are potentially confounded adiposity that hampers their interpretation and applicability in clinical assessment fitness. Objective We aimed find most appropriate measure for scaling among children. Methods assessed weight height, maximal workload ( W MAX ) oxygen uptake VO 2 using cycle...
Abstract Aims/hypothesis We studied for the first time long-term effects of a combined physical activity and dietary intervention on insulin resistance fasting plasma glucose in general population predominantly normal-weight children. Methods carried out 2 year non-randomised controlled trial sample 504 children aged 6–9 years at baseline. The were allocated to group (306 baseline, 261 2-year follow-up) or control (198 children, 177 children) without blinding. measured glucose, calculated...
X-Linked nephrogenic diabetes insipidus (NDI) is a rare inherited disorder characterized by the excretion of abnormal large volumes diluted urine mainly caused mutations in V2 vasopressin receptor (AVPR2) gene. By screening NDI patients for within AVPR2 gene we have identified three novel (I46K, F105V, I130F) and four recurrent (D85N, R106C, R113W, Q225X) mutations. In addition, missense mutation (A147T) aquaporin-2 was female patient with autosomal recessive associated sensorineural...
Most mutations in the androgen receptor (AR) ligand-binding domain (LBD) disrupt binding of natural ligands: dihydrotestosterone and testosterone. Some AR LBD do not affect ligand but they androgen-induced interaction N-terminal motif FXXLF C-terminal activation function 2 (AF2). As N-/C-terminal requires agonists that have activity vivo , it correlates well with phenotype. To study this further, we searched Cambridge intersex database for patients a detected missense mutation presenting...