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  1. Article ; Online: Central precocious puberty in boys: secular trend and clinical features.

    Huttunen, Heta / Kärkinen, Juho / Varimo, Tero / Miettinen, Päivi J / Raivio, Taneli / Hero, Matti

    European journal of endocrinology

    2024  Volume 190, Issue 3, Page(s) 211–219

    Abstract: Objective: Recent studies suggest that boys enter puberty at a younger age, and the incidence of male central precocious puberty (CPP) is increasing. In this study, we explore the incidence of male CPP and identify key clinical and auxological ... ...

    Abstract Objective: Recent studies suggest that boys enter puberty at a younger age, and the incidence of male central precocious puberty (CPP) is increasing. In this study, we explore the incidence of male CPP and identify key clinical and auxological indicators for organic CPP (OCPP).
    Design: A retrospective registry-based study.
    Methods: The medical records of 43 boys treated with CPP at the Helsinki University Hospital between 1985 and 2014 were reviewed. Clinical, auxological, and endocrine data of the CPP patients were included in the analyses.
    Results: Based on brain MRI, 26% of patients had OCPP. Between 2010 and 2014, the CPP incidence in boys was 0.34 per 10 000 (95% CI 0.20-0.60). Between 1990 and 2014, the male CPP incidence increased (incidence rate ratio [IRR] 1.10, P = .001). This increase was driven by rising idiopathic CPP (ICPP) incidence (IRR 1.11, 95% CI 1.05-1.19, P < .001), while OCPP incidence remained stable (P = .41). Compared with the patients with ICPP, the patients with OCPP were younger (P = .006), were shorter (P = .003), and had higher basal serum testosterone levels (P = .038). Combining 2 to 4 of these readily available clinical cues resulted in good to excellent (all, area under the curve 0.84-0.97, P < .001) overall performance, differentiating organic etiology from idiopathic.
    Conclusions: The estimated incidence of CPP in boys was 0.34 per 10 000, with 26% of cases associated with intracranial pathology. The increase in CPP incidence was driven by rising ICPP rates. Patients with OCPP were characterized by shorter stature, younger age, and higher basal testosterone levels, providing valuable cues for differentiation in addition to brain MRI. Utilizing multiple cues could guide diagnostic decision-making.
    MeSH term(s) Humans ; Male ; Luteinizing Hormone ; Puberty, Precocious/diagnosis ; Puberty, Precocious/epidemiology ; Follicle Stimulating Hormone ; Retrospective Studies ; Testosterone ; Gonadotropin-Releasing Hormone
    Chemical Substances Luteinizing Hormone (9002-67-9) ; Follicle Stimulating Hormone (9002-68-0) ; Testosterone (3XMK78S47O) ; Gonadotropin-Releasing Hormone (33515-09-2)
    Language English
    Publishing date 2024-03-27
    Publishing country England
    Document type Journal Article
    ZDB-ID 1183856-5
    ISSN 1479-683X ; 0804-4643
    ISSN (online) 1479-683X
    ISSN 0804-4643
    DOI 10.1093/ejendo/lvae021
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  2. Article ; Online: Etiology of severe short stature below -3 SDS in a screened Finnish population.

    Kärkinen, Juho / Miettinen, Päivi J / Raivio, Taneli / Hero, Matti

    European journal of endocrinology

    2020  Volume 183, Issue 5, Page(s) 481–488

    Abstract: Objective: To describe the etiology of severe short stature in the Helsinki University Hospital district covering a population of 1.2 million that is subject to frequent growth monitoring and screening rules during childhood.: Design: Retrospective ... ...

    Abstract Objective: To describe the etiology of severe short stature in the Helsinki University Hospital district covering a population of 1.2 million that is subject to frequent growth monitoring and screening rules during childhood.
    Design: Retrospective cohort study.
    Methods: We identified all subjects born 1990 or later with a height SD score <-3, after the age of 3 years, from the Helsinki University Hospital district growth database. A total of 785 subjects (376 females and 409 males) fulfilled our inclusion criteria; we reviewed their medical records and growth data and report their underlying diagnoses.
    Results: A pathological cause for short stature was diagnosed in 76% of the girls and 71% of the boys (P = NS). Syndromes were the most numerous pathological cause (n = 160; 20%), followed by organ disorders (n = 127; 16%), growth hormone deficiency (GHD, n = 94; 12%), SGA without catch-up growth (n = 73; 9%), and skeletal dysplasias (n = 57; 7%). Idiopathic short stature (ISS) was diagnosed in 210 (27%) subjects. The probability of growth-related pathology, particularly of a syndrome or skeletal dysplasia, increased with the shorter height SD score and the greater deviation from the target height. Sitting height to height SDS was increased in subjects with ISS, GHD, and SGA (all P < 0.01).
    Conclusions: Height <-3 SDS after 3 years of age usually results from a pathological cause and should be thoroughly investigated in specialized health care. The chance of finding a specific etiology increased with the severity of short stature, and the mismatch with target height.
    MeSH term(s) Adolescent ; Body Height ; Child ; Child, Preschool ; Databases, Factual ; Dwarfism/epidemiology ; Dwarfism/etiology ; Female ; Finland/epidemiology ; Growth Charts ; Growth Disorders/epidemiology ; Growth Disorders/etiology ; Humans ; Male ; Retrospective Studies ; Syndrome
    Language English
    Publishing date 2020-10-23
    Publishing country England
    Document type Journal Article
    ZDB-ID 1183856-5
    ISSN 1479-683X ; 0804-4643
    ISSN (online) 1479-683X
    ISSN 0804-4643
    DOI 10.1530/EJE-20-0313
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: The aetiology of extreme tall stature in a screened Finnish paediatric population.

    Kärkinen, Juho / Sorakunnas, Eero / Miettinen, Päivi J / Raivio, Taneli / Hero, Matti

    EClinicalMedicine

    2021  Volume 42, Page(s) 101208

    Abstract: Background: Extremely tall children (defined as height SDS (HSDS) ≥+3) are frequently referred to specialized healthcare for diagnostic work-up. However, no systematic studies focusing on such children currently exist. We investigated the aetiology, ... ...

    Abstract Background: Extremely tall children (defined as height SDS (HSDS) ≥+3) are frequently referred to specialized healthcare for diagnostic work-up. However, no systematic studies focusing on such children currently exist. We investigated the aetiology, clinical features, and auxological clues indicative of syndromic tall stature in extremely tall children subject to population-wide growth monitoring and screening rules.
    Methods: Subjects with HSDS ≥+3 after three years of age born between 1990 and 2010 were identified from the Helsinki University Hospital district growth database. We comprehensively reviewed their medical records up to December 2020 and recorded underlying diagnoses, auxological data, and clinical features.
    Findings: We identified 424 subjects (214 girls and 210 boys) who fulfilled the inclusion criteria. Underlying growth disorder was diagnosed in 61 (14%) patients, in 36 (17%) girls and 25 (12%) boys, respectively (P=0•15). Secondary causes were diagnosed in 42 (10%) patients and the two most frequent secondary diagnoses, premature adrenarche, and central precocious puberty were more frequent in girls. Primary disorder, mainly Marfan or Sotos syndrome, was diagnosed in 19 (4%) patients. Molecular genetic studies were used as a part of diagnostic work-up in 120 subjects. However, array CGH or next-generation sequencing studies were seldom used. Idiopathic tall stature (ITS) was diagnosed in 363 (86%) subjects, and it was considered familial in two-thirds. Dysmorphic features or a neurodevelopmental disorder were recorded in 104 (29%) children with ITS. The probability of a monogenic primary growth disorder increased with the degree of tall stature and deviation from target height.
    Interpretation: A considerable proportion of extremely tall children have an underlying primary or secondary growth disorder, and their risk is associated with auxological parameters. Clinical features related to syndromic tall stature were surprisingly frequent in subjects with ITS, supporting the view that syndromic growth disorders with mild phenotypes may be underdiagnosed in extremely tall children. Our results lend support to comprehensive diagnostic work-up of extremely tall children.
    Funding: Päivikki and Sakari Sohlberg Foundation, Foundation for Pediatric Research, and Helsinki University Hospital research grants.
    Language English
    Publishing date 2021-11-20
    Publishing country England
    Document type Journal Article
    ISSN 2589-5370
    ISSN (online) 2589-5370
    DOI 10.1016/j.eclinm.2021.101208
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Congenital hypogonadotropic hypogonadism in a patient with a de novo POGZ mutation.

    Eskici, Nazli / Madhusudan, Shrinidhi / Vaaralahti, Kirsi / Yellapragada, Venkatram / Gomez-Sanchez, Celia / Kärkinen, Juho / Almusa, Henrikki / Brandstack, Nina / Miettinen, Päivi J / Wang, Yafei / Raivio, Taneli

    European journal of endocrinology

    2023  Volume 189, Issue 2, Page(s) 271–280

    Abstract: Objective: Congenital hypogonadotropic hypogonadism (CHH) is a rare, genetically heterogeneous reproductive disorder caused by gonadotropin-releasing hormone (GnRH) deficiency. Approximately half of CHH patients also have decreased or absent sense of ... ...

    Abstract Objective: Congenital hypogonadotropic hypogonadism (CHH) is a rare, genetically heterogeneous reproductive disorder caused by gonadotropin-releasing hormone (GnRH) deficiency. Approximately half of CHH patients also have decreased or absent sense of smell, that is, Kallmann syndrome (KS). We describe a patient with White-Sutton syndrome (developmental delay and autism spectrum disorder) and KS due to a heterozygous de novo mutation in POGZ (c.2857C>T, p.(Gln953*)), a gene encoding pogo transposable element derived with zinc finger domain, which acts as a transcriptomic regulator of neuronal networks.
    Design and methods: We modeled the role of POGZ in CHH by generating 2 clonal human pluripotent stem cell lines with CRISPR/Cas9, carrying either the heterozygous patient mutation (H11 line) or a homozygous mutation (c.2803-2906del; p.E935Kfs*7 encoding a truncated POGZ protein; F6del line).
    Results: During the differentiation to GnRH neurons, neural progenitors derived from F6del line displayed severe proliferation defect, delayed wound-healing capacity, downregulation of intermediate progenitor neuron genes TBR1 and TBR2, and immature neuron markers PAX6 and TUBB3 and gave rise to fewer neurons with shorter neurites and less neurite branch points compared to the WT and H11 lines (P < .005). Both lines, however, could be successfully differentiated to GnRH neurons.
    Conclusions: In conclusion, this is the first report on the overlap between White-Sutton syndrome and CHH. POGZ mutations do not hinder GnRH neuron formation but may cause CHH/KS by affecting the size and motility of the anterior neural progenitor pool and neurite outgrowth.
    MeSH term(s) Humans ; Autism Spectrum Disorder ; Kallmann Syndrome/genetics ; Neurons ; Gonadotropin-Releasing Hormone ; Mutation/genetics
    Chemical Substances Gonadotropin-Releasing Hormone (33515-09-2)
    Language English
    Publishing date 2023-08-24
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1183856-5
    ISSN 1479-683X ; 0804-4643
    ISSN (online) 1479-683X
    ISSN 0804-4643
    DOI 10.1093/ejendo/lvad111
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  5. Article ; Online: Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2.

    Iivonen, Anna-Pauliina / Kärkinen, Juho / Yellapragada, Venkatram / Sidoroff, Virpi / Almusa, Henrikki / Vaaralahti, Kirsi / Raivio, Taneli

    European journal of endocrinology

    2021  Volume 185, Issue 1, Page(s) 57–66

    Abstract: 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 ... ...

    Abstract 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 whole-genome 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.
    MeSH term(s) Adolescent ; Basic Helix-Loop-Helix Transcription Factors/genetics ; Chromosomes, Human, Pair 9/genetics ; Craniofacial Abnormalities/complications ; Craniofacial Abnormalities/genetics ; DNA Repair Enzymes/genetics ; DNA-Binding Proteins/genetics ; Developmental Disabilities/complications ; Developmental Disabilities/genetics ; Gene Deletion ; Haploinsufficiency ; Hearing Loss, Sensorineural/complications ; Hearing Loss, Sensorineural/genetics ; Heart Septal Defects/complications ; Heart Septal Defects/genetics ; Humans ; Ion Channels/genetics ; Kallmann Syndrome/complications ; Kallmann Syndrome/genetics ; Kruppel-Like Transcription Factors/genetics ; Male ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Neoplasm Proteins/genetics ; Nerve Tissue Proteins/genetics ; Sequence Analysis, RNA ; Syndrome ; Transcription Factors/genetics ; Whole Exome Sequencing
    Chemical Substances Basic Helix-Loop-Helix Transcription Factors ; DNA-Binding Proteins ; FKTN protein, human ; GKLF protein ; Ion Channels ; Kruppel-Like Transcription Factors ; Membrane Proteins ; Neoplasm Proteins ; Nerve Tissue Proteins ; Palm2-AKAP2 fusion protein, human ; RAD23B protein, human ; TAL2 protein, human ; TMEM38B protein, human ; Transcription Factors ; ZNF462 protein, human ; DNA Repair Enzymes (EC 6.5.1.-)
    Language English
    Publishing date 2021-05-21
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1183856-5
    ISSN 1479-683X ; 0804-4643
    ISSN (online) 1479-683X
    ISSN 0804-4643
    DOI 10.1530/EJE-20-1387
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years.

    Hietamäki, Johanna / Kärkinen, Juho / Iivonen, Anna-Pauliina / Vaaralahti, Kirsi / Tarkkanen, Annika / Almusa, Henrikki / Huopio, Hanna / Hero, Matti / Miettinen, Päivi J / Raivio, Taneli

    EClinicalMedicine

    2022  Volume 51, Page(s) 101556

    Abstract: Background: Childhood-onset combined pituitary hormone deficiency (CPHD) has a wide spectrum of etiologies and genetic causes for congenital disease. We aimed to describe the clinical spectrum and genetic etiologies of CPHD in a single tertiary center ... ...

    Abstract Background: Childhood-onset combined pituitary hormone deficiency (CPHD) has a wide spectrum of etiologies and genetic causes for congenital disease. We aimed to describe the clinical spectrum and genetic etiologies of CPHD in a single tertiary center and estimate the population-level incidence of congenital CPHD.
    Methods: The retrospective clinical cohort comprised 124 CPHD patients (48 with congenital CPHD) treated at the Helsinki University Hospital (HUH) Children's Hospital between 1985 and 2018. Clinical data were collected from the patient charts. Whole exome sequencing was performed in 21 patients with congenital CPHD of unknown etiology.
    Findings: The majority (61%;76/124) of the patients had acquired CPHD, most frequently due to craniopharyngiomas and gliomas. The estimated incidence of congenital CPHD was 1/16 000 (95%CI, 1/11 000-1/24 000). The clinical presentation of congenital CPHD in infancy included prolonged/severe neonatal hypoglycaemia, prolonged jaundice, and/or micropenis/bilateral cryptorchidism in 23 (66%) patients; despite these clinical cues, only 76% of them were referred to endocrine investigations during the first year of life. The median delay between the first violation of the growth screening rules and the initiation of GH Rx treatment among all congenital CPHD patients was 2·2 years, interquartile range 1·2-3·7 years. Seven patients harbored pathogenic variants in
    Interpretation: Our study suggests that congenital CPHD can occur in 1/16 000 children, and that patients frequently exhibit neonatal cues of hypopituitarism and early height growth deflection. These results need to be corroborated in future studies and might inform clinical practice.
    Funding: Päivikki and Sakari Sohlberg Foundation, Biomedicum Helsinki Foundation, and Emil Aaltonen Foundation research grants.
    Language English
    Publishing date 2022-07-18
    Publishing country England
    Document type Journal Article
    ISSN 2589-5370
    ISSN (online) 2589-5370
    DOI 10.1016/j.eclinm.2022.101556
    Database MEDical Literature Analysis and Retrieval System OnLINE

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