Kirsi Vaaralahti

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CONTEXT The determinants of serum anti-Müllerian hormone (AMH) levels in adult men remain unclear. OBJECTIVE The objective of the study was to investigate the genetic and environmental components in determining postpubertal AMH levels in healthy men. DESIGN AND PARTICIPANTS Serum AMH levels, body mass index (BMI), and fat mass (dual energy x-ray(More)
BACKGROUND Recently variation in LIN28B, a human ortholog of the gene-regulating processing of micro-RNAs (miRNAs) controlling the timing of major developmental events in the nematode Caenorhabditis elegans, was reported to be associated with timing of puberty in humans. In C. elegans, a gain-of-function allele of lin-28 causes a retarded phenotype. (More)
BACKGROUND Elevated levels of circulating fibroblast growth factor 21 (FGF21) are commonly encountered in type 2 diabetes, dyslipidemia, and non-alcoholic fatty liver disease, all of which share exaggerated postprandial lipemia as a common proatherogenic feature. How FGF21 responds to an oral fat load in man is unknown. METHODS We measured liver fat(More)
OBJECTIVE To investigate peripheral levels of inhibin B and antimüllerian hormone (AMH) in boys during peripuberty and in patients with congenital hypogonadotropic hypogonadism (HH). DESIGN Randomized, placebo-controlled trial (peripubertal boys); and cross-sectional clinical study (males with HH). SETTING University central hospital. PATIENT(S)(More)
K syndrome (KS; Mendelian Inheritance in Man (MIM)# 147950), a combination of congenital hypogonadotropic hypogonadism (MIM# 146110) and decreased/ absent sense of smell, results from disturbed migration of gonadotropin-releasing hormone neurons along the olfactory sensory neurons from the olfactory placode to the hypothalamus. The reproductive phenotype(More)
BACKGROUND Congenital hypogonadotropic hypogonadism (HH), a rare disorder characterized by absent, partial, or delayed puberty, can be caused by the lack or deficient number of hypothalamic gonadotropin-releasing hormone (GnRH) neurons. SEMA3A was recently implicated in the etiology of the disorder, and Sema7A-deficient mice have a reduced number of GnRH(More)
Liver transplantation (LT) predisposes to metabolic derangements and increases the risk for cardiovascular disease. We conducted a national cross-sectional study of all pediatric recipients who underwent LT between 1987 and 2007. We measured serum levels of noncholesterol sterols (surrogate markers of cholesterol synthesis and intestinal absorption) and(More)
BACKGROUND Kallmann syndrome (KS), comprised of congenital hypogonadotropic hypogonadism (HH) and anosmia, is a clinically and genetically heterogeneous disorder. Its exact incidence is currently unknown, and a mutation in one of the identified KS genes has only been found in ~30% of the patients. METHODS Herein, we investigated epidemiological, clinical,(More)
BACKGROUND Congenital hypogonadotropic hypogonadism (HH) is a rare cause for delayed or absent puberty. These patients may recover from HH spontaneously in adulthood. To date, it is not possible to predict who will undergo HH reversal later in life. Herein we investigated whether Finnish patients with reversal of congenital hypogonadotropic hypogonadism(More)
Variation in FGFR1, GNRHR, TAC3, and TACR3 was evaluated in 146 Finnish subjects with constitutional delay of growth and puberty. Although one male subject carried a previously undescribed heterozygous deletion (Phe309del) in GNRHR, which segregated with delayed puberty in his family, mutations in the coding regions of FGFR1, GNRHR, TAC3, and TACR3 are not(More)