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  1. Article ; Online: Early Onset GH Excess: Somatotroph Adenoma in a Young Adult.

    Galbiati, Francesca / Kaiser, Ursula B

    JCEM case reports

    2023  Volume 1, Issue 2, Page(s) luad030

    Abstract: GH-secreting pituitary adenomas can cause gigantism or acromegaly, determined by onset before or after epiphyseal fusion of the distal ends of the radius and ulna. Overlapping phenotypes can occur when the condition presents peripubertally. Gigantism is ... ...

    Abstract GH-secreting pituitary adenomas can cause gigantism or acromegaly, determined by onset before or after epiphyseal fusion of the distal ends of the radius and ulna. Overlapping phenotypes can occur when the condition presents peripubertally. Gigantism is associated with identifiable hereditary causes and genetic mutations in almost 50% of cases; genetic testing should be considered in patients with gigantism and early-onset acromegaly, especially (but not only) when pituitary tumors have aggressive features and/or are refractory to standard treatments. Here, we present a case of a young adult with a giant somatotroph adenoma resistant to multiple treatment modalities and negative for mutations in
    Language English
    Publishing date 2023-04-13
    Publishing country England
    Document type Case Reports
    ISSN 2755-1520
    ISSN (online) 2755-1520
    DOI 10.1210/jcemcr/luad030
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  2. Article ; Online: Evolutionary Conservation of MKRN3 and Other Makorins and Their Roles in Puberty Initiation and Endocrine Functions.

    Naulé, Lydie / Kaiser, Ursula B

    Seminars in reproductive medicine

    2020  Volume 37, Issue 4, Page(s) 166–173

    Abstract: Puberty is a critical period of development regulated by genetic, nutritional, and environmental factors. The role ... ...

    Abstract Puberty is a critical period of development regulated by genetic, nutritional, and environmental factors. The role of
    MeSH term(s) Animals ; Conserved Sequence ; Endocrine System/physiology ; Evolution, Molecular ; Humans ; Puberty/genetics ; Ribonucleoproteins/genetics ; Ribonucleoproteins/physiology ; Sexual Maturation/genetics ; Ubiquitin-Protein Ligases/genetics ; Ubiquitin-Protein Ligases/physiology
    Chemical Substances Ribonucleoproteins ; MKRN3 protein, human (EC 2.3.2.27) ; Ubiquitin-Protein Ligases (EC 2.3.2.27)
    Language English
    Publishing date 2020-01-23
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2042479-6
    ISSN 1526-4564 ; 1526-8004
    ISSN (online) 1526-4564
    ISSN 1526-8004
    DOI 10.1055/s-0039-3400965
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: DLK1, Notch Signaling and the Timing of Puberty.

    Macedo, Delanie B / Kaiser, Ursula B

    Seminars in reproductive medicine

    2020  Volume 37, Issue 4, Page(s) 174–181

    Abstract: The factors that trigger human puberty are among the central mysteries of reproductive biology. Several approaches, including mutational analysis of candidate genes, large-scale genome-wide association studies, whole exome sequencing, and whole genome ... ...

    Abstract The factors that trigger human puberty are among the central mysteries of reproductive biology. Several approaches, including mutational analysis of candidate genes, large-scale genome-wide association studies, whole exome sequencing, and whole genome sequencing have been performed in attempts to identify novel genetic factors that modulate the human hypothalamic-pituitary-gonadal axis to result in premature sexual development. Genetic abnormalities involving excitatory and inhibitory pathways regulating gonadotropin-releasing hormone secretion, represented by the kisspeptin (
    MeSH term(s) Age Factors ; Calcium-Binding Proteins/physiology ; Genome-Wide Association Study ; Humans ; Membrane Proteins/physiology ; Puberty/genetics ; Puberty/physiology ; Receptors, Notch/physiology ; Sexual Maturation/genetics ; Signal Transduction/physiology ; Time Factors
    Chemical Substances Calcium-Binding Proteins ; DLK1 protein, human ; Membrane Proteins ; Receptors, Notch
    Language English
    Publishing date 2020-01-23
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2042479-6
    ISSN 1526-4564 ; 1526-8004
    ISSN (online) 1526-4564
    ISSN 1526-8004
    DOI 10.1055/s-0039-3400963
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: The NETting of pituitary adenoma: a gland illusion.

    Ho, Ken K Y / Gadelha, Mônica / Kaiser, Ursula B / Reincke, Martin / Melmed, Shlomo

    Pituitary

    2022  Volume 25, Issue 3, Page(s) 349–351

    MeSH term(s) Adenoma ; Humans ; Illusions ; Pituitary Gland ; Pituitary Neoplasms
    Language English
    Publishing date 2022-05-26
    Publishing country United States
    Document type Editorial
    ZDB-ID 1385151-2
    ISSN 1573-7403 ; 1386-341X
    ISSN (online) 1573-7403
    ISSN 1386-341X
    DOI 10.1007/s11102-022-01235-x
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  5. Article ; Online: Environmental Pollution, Climate Change, and a Critical Role for the Endocrinologist.

    Stewart, Paul M / Mirmira, Raghavendra G / Kaiser, Ursula B

    The Journal of clinical endocrinology and metabolism

    2021  Volume 106, Issue 12, Page(s) 3381–3384

    MeSH term(s) Climate Change ; Endocrinologists/statistics & numerical data ; Environmental Pollution/adverse effects ; Humans ; Metabolic Diseases/etiology ; Metabolic Diseases/pathology ; Metabolic Diseases/prevention & control ; Respiration Disorders/etiology ; Respiration Disorders/pathology ; Respiration Disorders/prevention & control
    Language English
    Publishing date 2021-10-30
    Publishing country United States
    Document type Editorial
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/clinem/dgab721
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  6. Article ; Online: GENETICS IN ENDOCRINOLOGY: Genetic etiologies of central precocious puberty and the role of imprinted genes.

    Roberts, Stephanie A / Kaiser, Ursula B

    European journal of endocrinology

    2020  Volume 183, Issue 4, Page(s) R107–R117

    Abstract: Pubertal timing is regulated by the complex interplay of genetic, environmental, nutritional and epigenetic factors. Criteria for determining normal pubertal timing, and thus the definition of precocious puberty, have evolved based on published ... ...

    Abstract Pubertal timing is regulated by the complex interplay of genetic, environmental, nutritional and epigenetic factors. Criteria for determining normal pubertal timing, and thus the definition of precocious puberty, have evolved based on published population studies. The significance of the genetic influence on pubertal timing is supported by familial pubertal timing and twin studies. In contrast to the many monogenic causes associated with hypogonadotropic hypogonadism, only four monogenic causes of central precocious puberty (CPP) have been described. Loss-of-function mutations in Makorin Ring Finger Protein 3(MKRN3), a maternally imprinted gene on chromosome 15 within the Prader-Willi syndrome locus, are the most common identified genetic cause of CPP. More recently, several mutations in a second maternally imprinted gene, Delta-like noncanonical Notch ligand 1 (DLK1), have also been associated with CPP. Polymorphisms in both genes have also been associated with the age of menarche in genome-wide association studies. Mutations in the genes encoding kisspeptin (KISS1) and its receptor (KISS1R), potent activators of GnRH secretion, have also been described in association with CPP, but remain rare monogenic causes. CPP has both short- and long-term health implications for children, highlighting the importance of understanding the mechanisms contributing to early puberty. Additionally, given the role of mutations in the imprinted genes MKRN3 and DLK1 in pubertal timing, other imprinted candidate genes should be considered for a role in puberty initiation.
    MeSH term(s) Adolescent ; Child ; Female ; Genome-Wide Association Study ; Genomic Imprinting/physiology ; Humans ; Kisspeptins/genetics ; Male ; Mutation ; Puberty/genetics ; Puberty, Precocious/epidemiology ; Puberty, Precocious/genetics ; Receptors, Kisspeptin-1/genetics
    Chemical Substances KISS1 protein, human ; KISS1R protein, human ; Kisspeptins ; Receptors, Kisspeptin-1
    Language English
    Publishing date 2020-07-17
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1183856-5
    ISSN 1479-683X ; 0804-4643
    ISSN (online) 1479-683X
    ISSN 0804-4643
    DOI 10.1530/EJE-20-0103
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  7. Article ; Online: Decade in review-reproductive endocrinology: Understanding reproductive endocrine disorders.

    Kaiser, Ursula B

    Nature reviews. Endocrinology

    2015  Volume 11, Issue 11, Page(s) 640–641

    MeSH term(s) Adult ; Endocrine System Diseases/complications ; Endocrine System Diseases/genetics ; Endocrinology ; Female ; Humans ; Infertility/etiology ; Infertility/genetics ; Male ; Ovary/physiology ; Pregnancy
    Language English
    Publishing date 2015-10-13
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 2489381-X
    ISSN 1759-5037 ; 1759-5029
    ISSN (online) 1759-5037
    ISSN 1759-5029
    DOI 10.1038/nrendo.2015.179
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  8. Article ; Online: Makorin RING finger protein 3 and central precocious puberty.

    Maione, Luigi / Naulé, Lydie / Kaiser, Ursula B

    Current opinion in endocrine and metabolic research

    2020  Volume 14, Page(s) 152–159

    Abstract: Makorin RING finger protein 3 (MKRN3) is a key inhibitor of the hypothalamic-pituitary-gonadal axis. Loss-of-function mutations ... ...

    Abstract Makorin RING finger protein 3 (MKRN3) is a key inhibitor of the hypothalamic-pituitary-gonadal axis. Loss-of-function mutations in
    Language English
    Publishing date 2020-08-26
    Publishing country England
    Document type Journal Article
    ISSN 2451-9650
    ISSN (online) 2451-9650
    DOI 10.1016/j.coemr.2020.08.003
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  9. Article ; Online: Editorial: advances in neuroscience: the BRAIN initiative and implications for neuroendocrinology.

    Kaiser, Ursula B

    Molecular endocrinology (Baltimore, Md.)

    2014  Volume 28, Issue 10, Page(s) 1589–1591

    MeSH term(s) Humans ; Neuroendocrinology ; Neurosciences ; Research/trends
    Language English
    Publishing date 2014-09-30
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 639167-9
    ISSN 1944-9917 ; 0888-8809
    ISSN (online) 1944-9917
    ISSN 0888-8809
    DOI 10.1210/me.2014-1288
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  10. Article ; Online: Central precocious puberty: Recent advances in understanding the aetiology and in the clinical approach.

    Maione, Luigi / Bouvattier, Claire / Kaiser, Ursula B

    Clinical endocrinology

    2021  Volume 95, Issue 4, Page(s) 542–555

    Abstract: Central precocious puberty (CPP) results from early activation of the hypothalamic-pituitary-gonadal (HPG) axis. The current state of knowledge of the complex neural network acting at the level of the hypothalamus and the GnRH neuron to control puberty ... ...

    Abstract Central precocious puberty (CPP) results from early activation of the hypothalamic-pituitary-gonadal (HPG) axis. The current state of knowledge of the complex neural network acting at the level of the hypothalamus and the GnRH neuron to control puberty onset has expanded, particularly in the context of molecular interactions. Along with these advances, the knowledge of pubertal physiology and pathophysiology has also increased. This review focuses on regulatory abnormalities occurring at the hypothalamic level of the HPG axis to cause CPP. The clinical approach to diagnosis of puberty and pubertal disorders is also reviewed, with a particular focus on aetiologies of CPP. The recent identification of mutations in MKRN3 and DLK1 in familial as well sporadic forms of CPP has changed the state of the art of the approach to patients with CPP. Genetic advances have also had important repercussions beyond consideration of puberty alone. Syndromic disorders and central nervous system lesions associated with CPP are also discussed. If untreated, these conditions may lead to adverse physical, psychosocial and medical outcomes.
    MeSH term(s) Gonadotropin-Releasing Hormone ; Humans ; Mutation ; Puberty ; Puberty, Precocious/genetics ; Ubiquitin-Protein Ligases
    Chemical Substances Gonadotropin-Releasing Hormone (33515-09-2) ; MKRN3 protein, human (EC 2.3.2.27) ; Ubiquitin-Protein Ligases (EC 2.3.2.27)
    Language English
    Publishing date 2021-04-20
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 121745-8
    ISSN 1365-2265 ; 0300-0664
    ISSN (online) 1365-2265
    ISSN 0300-0664
    DOI 10.1111/cen.14475
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