Johanna Hietamäki

ORCID: 0000-0003-1548-4493
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About
Contact & Profiles
Research Areas
  • Sexual Differentiation and Disorders
  • Hypothalamic control of reproductive hormones
  • Medical Imaging Techniques and Applications
  • Pituitary Gland Disorders and Treatments
  • Ovarian function and disorders
  • Neuroscience and Neuropharmacology Research
  • Growth Hormone and Insulin-like Growth Factors
  • Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Biochemical and Molecular Research
  • Genetic Syndromes and Imprinting
  • Bioinformatics and Genomic Networks
  • Sperm and Testicular Function
  • Anesthesia and Sedative Agents
  • Pancreatic function and diabetes
  • Genetic and Kidney Cyst Diseases
  • Diabetes and associated disorders
  • Adrenal Hormones and Disorders
  • Neuroblastoma Research and Treatments
  • Receptor Mechanisms and Signaling
  • Immunodeficiency and Autoimmune Disorders
  • Advanced Proteomics Techniques and Applications

Helsinki University Hospital
2017-2022

Helsinki Children's Hospital
2019-2022

University of Helsinki
2017-2019

Orion Corporation (Finland)
2014

STUDY QUESTION: What is the peripubertal outcome of recombinant human FSH (r-hFSH) treatment during minipuberty in boys with congenital hypogonadotropic hypogonadism (CHH)?SUMMARY ANSWER: Sertoli-cell response to r-hFSH, given infancy, appears insufficient maintain Sertoli cell function throughout childhood, as evaluated by inhibin B measurements.WHAT IS KNOWN ALREADY: Severe CHH can be diagnosed infancy.Combined gonadotropin at that age suggested improve testicular endocrine and future...

10.1093/humrep/dez040 article EN cc-by-nc Human Reproduction 2019-02-28

We describe the etiology, MRI findings, and growth patterns in girls who had presented with signs of precocious puberty (PP), i.e., premature breast development or early menarche. Special attention was paid to diagnostic findings 6- 8-year-olds. reviewed medical records 149 (aged 0.7-10.3 years) been evaluated for PP Helsinki University Hospital between 2001 2014. In 8-year-old girls, most frequently caused by idiopathic gonadotropin-releasing hormone (GnRH)-dependent (60%) thelarche (PT;...

10.3389/fendo.2017.00213 article EN cc-by Frontiers in Endocrinology 2017-08-22

Congenital pituitary hormone deficiencies with syndromic phenotypes and/or familial occurrence suggest genetic hypopituitarism; however, in many such patients the underlying molecular basis of disease remains unknown.

10.1210/clinem/dgaa078 article EN cc-by The Journal of Clinical Endocrinology & Metabolism 2020-02-15

Biallelic, partial loss-of-function mutations in GNRHR cause a wide spectrum of reproductive phenotypes from constitutional delay growth and puberty to complete congenital hypogonadotropic hypogonadism. We studied the frequency GNRHR, FGFR1, TAC3, TACR3 nine adolescent young adult females with clinical cues consistent gonadotropin deficiency (stalled puberty, unexplained secondary amenorrhea), describe phenotypic features molecular genetic findings monozygotic twin brothers stalled puberty....

10.1371/journal.pone.0188750 article EN cc-by PLoS ONE 2017-11-28

In this first chapter of the Yearbook, we present recent advances in development/ontogeny pituitary, genetics hypopituitarism, clinical and translational aspects, lastly describe two papers on relationship between pituitary function viral disease. We hope that our selection is both educational interesting to all readers.

10.1530/ey.18.1 article EN Yearbook of pediatric endocrinology 2021-09-15
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