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Variation of sex differentiation
Published in Joseph S. Sanfilippo, Eduardo Lara-Torre, Veronica Gomez-Lobo, Sanfilippo's Textbook of Pediatric and Adolescent GynecologySecond Edition, 2019
Anne-Marie Amies Oelschlager, Margarett Shnorhavorian
AMH receptor defect: Persistent Müllerian duct syndrome is associated with an AMH receptor defect. Usually this is not associated with ambiguous external genitalia but is discovered when Müllerian structures are identified in evaluation for a hernia or undescended testis. This condition is autosomal recessive due to a mutation in the AMH gene, location 19p13.3, or the receptor gene, AMHR2, location 12q13.13.
Effects of chemical exposures on testis cell-cell interactions and endocrine function
Published in C. Yan Cheng, Spermatogenesis, 2018
Rachel C. Knight, Jennifer R. Panizzi, Benson T. Akingbemi
AMH, a product of Sertoli cells, which is required to induce mesonephric cell migration during mammalian testis formation in the embryo, has receptors (AMHR2) in germ cells and Leydig cells.78,79 In the postnatal period, AMH concentrations were negatively correlated with testicular and epididymal weight.80 Transgenic mice with deletion of AMH or AMHR2 showed decreased testicular steroidogenic capacity while AMH overexpression increased serum T concentrations.81,82 In immature animals and in tfm mice, FSH administration increased AMH levels, suggesting FSH regulates AMH secretion.83 Interestingly, prenatal exposure of male rats to BPA and DEHP was associated with increased serum AMH levels in adulthood51 (Figure 19.6). As well, AMH expression was downregulated by development of meiotic germ cells while serum AMH concentrations correlated with increased FSH and T levels and decreased inhibin B concentrations in male subjects after administration of chemical toxicants (cisplatin and busulfan).80,84 AMH may be a good candidate for development as a biomarker for impaired testicular development and/or damage as reflected in serum levels and due to lack of diurnal variations and relative ease of measurement.
Effect of anti-Müllerian hormone in hypothalamic Kiss-1- and GnRH-producing cell models
Published in Gynecological Endocrinology, 2021
Aki Oride, Haruhiko Kanasaki, Tuvshintugs Tumurbaatar, Zolzaya Tumurgan, Hiroe Okada, Satoru Kyo
Anti-Müllerian hormone (AMH) is a transforming growth factor (TGF)-β family member that was initially identified because of its role in repressing Müllerian ducts in male embryos [5]. The primary sources of AMH production are the Sertoli cells of the male testis and the granulosa cells of the ovary [6,7] and AMH was traditionally reported to play a crucial role in sex differentiation and gonadal function [8]. However, accumulating evidence suggests that the biological effects of AMH are much broader than initially thought. AMH and its AMH receptor 2 (AMHR2) are broadly expressed beyond the gonads, such as in the brain and pituitary gland [9,10]. AMHR2-immunoreactive cells are widely distributed in several brain regions, including the cortex, hippocampus, and hypothalamus [9], and previous work suggests that AMH plays role in the central nervous system and influences the hypothalamic–pituitary–gonadal (HPG) axis. GnRH neurons express AMHR2 and AMH contributes to the development of GnRH neurons [11] and stimulates the neuronal activity of GnRH neurons and hormone secretion [9]. AMH also acts at the pituitary level and increases FSH secretion [10,12].
Characterization of a suboptimal IVF population and clinical outcome after two IVF cycles
Published in Gynecological Endocrinology, 2018
Beatriz Alvaro Mercadal, Ignacio Rodríguez, Gemma Arroyo, Francisca Martínez, Pedro Nolasco Barri, Buenaventura Coroleu
Regarding those patients with the highest probability of responding as optimal responders, 40.3% of the patients did not respond as such, despite there were no clinical differences on their ovarian reserve markers or units of gonadotropins used. This could lead to the hypothesis that genetic variants in genes that regulate the ovarian response could influence the response to the treatment. Pharmacogenetic studies in the FSH receptor (FSHR) variants have shown a lower estradiol level on those patients homozygous for the variant FSHR p.N680S S, compared to those homozygous for the variant FSHR p.N680S N [20]. Other retrospective studies have found a relationship between FSHR variants and ovarian response to treatment [21,22] but some others have not [23]. Probably, variants in other genes, such as AMH, AMHR2, ESR2, could also influence the ovarian response to the treatment [24]. However, large prospective and well-designed studies are missing in this field.
Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective
Published in Systems Biology in Reproductive Medicine, 2019
MR Nagaraja, Satya Prakash Gubbala, C. R. Wilma Delphine Silvia, Ramars Amanchy
AMH mutations are known to cause persistent mullerian duct syndrome type I and are diagnosed by quantifying serum MIS/AMH levels (Rey et al. 1999). AMH has been associated with AMHR2 (encodes for AMH receptor type 2), and mutations in the latter also show the obvious phenotype. ACVR1 [encodes for activin A receptor type 1, mutation causes fibrodysplasia ossificans progressiva (OMIM 135100)] is another AMH-associated gene.