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Molecular and Hormonal Advances in Amenorrhea
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Molecular and Hormonal Advances in Amenorrhea

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Endocrinology and Metabolism".

Deadline for manuscript submissions: closed (31 July 2022) | Viewed by 8619

Special Issue Editor

Prof. Dr. Blazej Meczekalski

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Guest Editor
Department of Gynecological Endocrinology, Poznan University of Medical Sciences, Poznan, Poland
Interests: hypothalamic amenorrhea; polycystic ovary syndrome; premature ovarian insufficiency; menopause

Special Issue Information

Dear Colleagues,

Amenorrhea, the absence of menstruation, is one of the most important symptoms in gynecological endocrinology. Primary amenorrhea is a lack of menarche by the age of 16, while secondary amenorrhea means the absence of menses for more than 3 months in women who previously had a regular menstrual cycle.

Pregnancy is the most common cause of secondary amenorrhea. After ruling out pregnancy, the main diagnostic scheme is used to find the cause of this symptom, with polycystic ovary syndrome, functional hypothalamic amenorrhea, hyperprolactinemia, and premature ovarian insufficiency are being the most common causes. Gonadal dysgenesis is the main etiological factor responsible for primary amenorrhea.

Gynecological endocrinology development is strongly associated with advances in the hormonal and genetic backgrounds of different diseases as well as amenorrhea diagnosis and treatment.

The aim of this Special Issue is to present a collection of papers that detail the latest knowledge concerning genetic and hormonal advances (diagnosis and treatment) in amenorrhea.

Prof. Dr. Blazej Meczekalski
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Amenorrhea
  • Genes
  • Hormones
  • Hypothalamic
  • Pituitary
  • Ovarian

Published Papers (3 papers)

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Review

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://0-doi-org.brum.beds.ac.uk/10.3390/ijms222413241 - 08 Dec 2021
Cited by 3 | Viewed by 2658
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)
11 pages, 480 KiB  
Review
Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight
by Karina Kapczuk and Witold Kędzia
Int. J. Mol. Sci. 2021, 22(21), 11495; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms222111495 - 25 Oct 2021
Cited by 5 | Viewed by 2668
Abstract
Congenital anomalies of the female reproductive tract that present with primary amenorrhea involve Müllerian aplasia, also known as Mayer–Rokitansky–Küster–Hauser syndrome (MRKHS), and cervical and vaginal anomalies that completely obstruct the reproductive tract. Karyotype abnormalities do not exclude the diagnosis of MRKHS. Familial cases [...] Read more.
Congenital anomalies of the female reproductive tract that present with primary amenorrhea involve Müllerian aplasia, also known as Mayer–Rokitansky–Küster–Hauser syndrome (MRKHS), and cervical and vaginal anomalies that completely obstruct the reproductive tract. Karyotype abnormalities do not exclude the diagnosis of MRKHS. Familial cases of Müllerian anomalies and associated malformations of the urinary and skeletal systems strongly suggest a complex genetic etiology, but so far, the molecular mechanism in the vast majority of cases remains unknown. Primary amenorrhea may also be the first presentation of complete androgen insensitivity syndrome, steroid 5α-reductase type 2 deficiency, 17β-hydroxysteroid dehydrogenase type 3 deficiency, and Leydig cells hypoplasia type 1; therefore, these disorders should be considered in the differential diagnosis of the congenital absence of the uterus and vagina. The molecular diagnosis in the majority of these cases can be established. Full article
(This article belongs to the Special Issue Molecular and Hormonal Advances in Amenorrhea)
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12 pages, 8373 KiB  
Review
Neuroendocrine Effects of Carnitines on Reproductive Impairments
by Tabatha Petrillo, Christian Battipaglia, Mohamed Ashraf Virmani, Andrea R. Genazzani and Alessandro D. Genazzani
Int. J. Mol. Sci. 2021, 22(19), 10781; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms221910781 - 05 Oct 2021
Cited by 9 | Viewed by 2566
Abstract
Carnitines are quaternary amines involved in various cellular processes such as fatty acid uptake, β-oxidation and glucose metabolism regulation. Due to their neurotrophic activities, their integrative use has been studied in several different physio-pathological conditions such as anorexia nervosa, chronic fatigue, vascular diseases, [...] Read more.
Carnitines are quaternary amines involved in various cellular processes such as fatty acid uptake, β-oxidation and glucose metabolism regulation. Due to their neurotrophic activities, their integrative use has been studied in several different physio-pathological conditions such as anorexia nervosa, chronic fatigue, vascular diseases, Alzheimer’s disease and male infertility. Being metabolically active, carnitines have also been proposed to treat reproductive impairment such as functional hypothalamic amenorrhea (FHA) and polycystic ovary syndrome (PCOS) since they improve both hormonal and metabolic parameters modulating the neuroendocrine impairments of FHA. Moreover, they are capable of improving the lipid profile and the insulin sensitivity in patients with PCOS. Full article
(This article belongs to the Special Issue Molecular and Hormonal Advances in Amenorrhea)
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