Results 41 to 50 of about 26,843 (264)
A Large PROP1 Gene Deletion in a Turkish Pedigree
Case Reports in Endocrinology, 2018 Pituitary-specific paired-like homeodomain transcription factor, PROP1, is associated with multiple pituitary hormone deficiency. Alteration of the gene encoding the PROP1 may affect somatotropes, thyrotropes, and lactotropes, as well as gonadotropes and
Suheyla Gorar +2 more
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The Egyptian Journal of Radiology and Nuclear Medicine, 2023 Background Pituitary stalk interruption syndrome is a rare congenital pituitary anatomical defect manifested with wide and various clinical presentations.
Loai Q. Mabreh, Aseel M. Al Rabab’ah
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Combined pituitary hormone deficiency - lessons from the murine models [PDF]
European Journal of Endocrinology, 1999 The molecular pathogenesis of some forms of combined pituitary hormone deficiency (CPHD, impaired production of growth hormone (GH) and one or more of the other five pituitary hormones) was established with the discovery of mutations in the pituitary transcription factor, POU1F1 (the human homologue of mouse Pit1) several years ago (1).
B B, Yeap, P J, Leedman
openaire +2 more sources
Intracranial germinoma combined with parathyroid adenoma in a male pediatric patient: A case report
SAGE Open Medical Case Reports, 2023 Cases of young patients combined with intracranial germinoma and parathyroid adenoma are extremely rare. A 6.25-year-old boy was diagnosed with growth hormone deficiency at his first visit and was then treated with growth hormone substitution.
Tingting Zhang +4 more
doaj +1 more source
Normal Growth despite Combined Pituitary Hormone Deficiency
Hormone Research in Paediatrics, 2019 Background: The paradox of normal growth despite a lack of growth hormone (GH) is an unexplained phenomenon described in some pathological (sellar, suprasellar, and hypothalamic disorders) and overgrowth syndromes. It has been suggested that the paradoxical growth is due to other GH variants, GH-like moieties, prolactin, insulin, insulin-like growth ...
El Kholy, Mohamed +11 more
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Frontiers in Endocrinology, 2020 Background/Purpose: A prolactinoma is the most common pituitary adenoma, but it is relatively rare in childhood and adolescence. There is only limited research about the clinical spectrum, treatment, and outcomes of prolactinomas in childhood and ...
Aram Yang +6 more
doaj +1 more source
Frontiers in Endocrinology, 2022 Combined pituitary hormone deficiency (CPHD) is not a rare disorder, with a frequency of approximately 1 case per 4,000 live births. However, in most cases, a genetic diagnosis is not available.
Hironori Bando +10 more
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A novel KAL1 mutation is associated with combined pituitary hormone deficiency [PDF]
Human Genome Variation, 2014 Using a next-generation sequencing strategy, we identified a novel KAL1 missense mutation (p.His568Gln) in a patient with combined pituitary hormone deficiency, right microphthalmia, right renal aplasia and severe developmental delay. Our findings will provide additional evidence that KAL1 mutations are associated with hypopituitarism, in addition to ...
Takagi, Masaki +4 more
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Genetic regulation of pituitary gland development in human and mouse
, 2009 Normal hypothalamopituitary development is closely related to that of the forebrain and is dependent upon a complex genetic cascade of transcription factors and signaling molecules that may be either intrinsic or extrinsic to the developing Rathke’s ...
Robin Lovell-Badge +9 more
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Diagnosis and Management of Central Congenital Hypothyroidism
Frontiers in Endocrinology, 2021 Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at birth due to insufficient stimulation by the pituitary of the thyroid gland. The incidence of central CH is currently estimated at around 1:13,000.
Peter Lauffer +4 more
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