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Keywords = pituitary amenorhhea

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12 pages, 288 KiB  
Review
The Genetic Backdrop of Hypogonadotropic Hypogonadism
by Anna Szeliga, Michal Kunicki, Marzena Maciejewska-Jeske, Natalia Rzewuska, Anna Kostrzak, Blazej Meczekalski, Gregory Bala, Roman Smolarczyk and Eli Y. Adashi
Int. J. Mol. Sci. 2021, 22(24), 13241; https://doi.org/10.3390/ijms222413241 - 8 Dec 2021
Cited by 8 | Viewed by 3701
Abstract
The pituitary is an organ of dual provenance: the anterior lobe is epithelial in origin, whereas the posterior lobe derives from the neural ectoderm. The pituitary gland is a pivotal element of the axis regulating reproductive function in mammals. It collects signals from [...] Read more.
The pituitary is an organ of dual provenance: the anterior lobe is epithelial in origin, whereas the posterior lobe derives from the neural ectoderm. The pituitary gland is a pivotal element of the axis regulating reproductive function in mammals. It collects signals from the hypothalamus, and by secreting gonadotropins (FSH and LH) it stimulates the ovary into cyclic activity resulting in a menstrual cycle and in ovulation. Pituitary organogenesis is comprised of three main stages controlled by different signaling molecules: first, the initiation of pituitary organogenesis and subsequent formation of Rathke’s pouch; second, the migration of Rathke’s pouch cells and their proliferation; and third, lineage determination and cellular differentiation. Any disruption of this sequence, e.g., gene mutation, can lead to numerous developmental disorders. Gene mutations contributing to disordered pituitary development can themselves be classified: mutations affecting transcriptional determinants of pituitary development, mutations related to gonadotropin deficiency, mutations concerning the beta subunit of FSH and LH, and mutations in the DAX-1 gene as a cause of adrenal hypoplasia and disturbed responsiveness of the pituitary to GnRH. All these mutations lead to disruption in the hypothalamic–pituitary–ovarian axis and contribute to the development of primary amenorrhea. Full article
(This article belongs to the Special Issue Molecular and Hormonal Advances in Amenorrhea)
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