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Infertility in Males

Infertility in Males

Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...

Disorders of the Male Reproductive System

Disorders of the Male Reproductive System

Men's health issues are increasingly recognized as significant, with several conditions posing common threats. Among these, testicular cancer is especially prevalent in younger men, particularly those aged 20 to 35 years. The disease often manifests as a painless mass in the testicles, sometimes accompanied by a sensation of heaviness or a dull ache.
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra....

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Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

The Y Chromosome Determines Maleness

The Y Chromosome Determines Maleness

The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....

Infertility in Females

Infertility in Females

Female infertility is defined as the inability to conceive after a year of regular, unprotected intercourse and affects about 10–15% of couples worldwide. The primary cause of female infertility is ovulatory disorders, which hinder the release of eggs. These disorders can be classified as hypothalamic amenorrhea, polycystic ovarian syndrome (PCOS), premature ovarian failure, and hyperprolactinemic anovulation disorders.
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Testosterone: Functions and Regulation

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The intricate hormonal interplay essential for male reproductive health begins with the release of gonadotropin-releasing hormone (GnRH) by the hypothalamus. This hormone prompts the pituitary gland to secrete follicle-stimulating hormone (FSH) and luteinizing hormone (LH). LH targets the Leydig cells in the testes, stimulating them to produce and release testosterone. In concert with testosterone, FSH acts on the Sertoli cells within the seminiferous tubules to facilitate the release of...

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Mild Androgen Insensitivity Syndrome: The Current Landscape.

Rafael Loch Batista¹, Flora Ladeira Craveiro², Raquel Martinez Ramos²

¹Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, do Departamento de Clínica Médica, Faculdade de Medicina da Universidade de São Paulo-USP, São Paulo, Brazil; Endocrinology Unit, Instituto do Câncer do Estado de São Paulo/ICESP, Faculdade de Medicina da Universidade de São Paulo-USP, São Paulo, Brazil.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists

|June 6, 2022

Summary

Mild androgen insensitivity syndrome (MAIS), a rare genetic condition, often presents as male infertility. Investigating androgen receptor (AR) gene mutations is crucial, even in men with typical external genitalia, for diagnosing MAIS and related disorders.

Keywords:

DSD androgen insensitivity syndrome androgen resistance androgens differences in sex development disorders of sex development

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A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome

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Published on: October 2, 2018

Area of Science:

Genetics
Endocrinology
Reproductive Medicine

Background:

Mild androgen insensitivity syndrome (MAIS) is part of the androgen insensitivity syndrome (AIS) spectrum, a common genetic cause of differences in sex development.
Research on AIS predominantly focuses on partial and complete phenotypes, with limited reporting on the mild MAIS phenotype.

Purpose of the Study:

To comprehensively explore the clinical and molecular aspects of MAIS.
To provide a detailed overview of the underreported mild phenotype of AIS.

Main Methods:

Systematic literature review of all reported MAIS cases.
Phenotypic and molecular diagnosis-based presentation of collected MAIS cases.

Main Results:

Identification of 49 distinct androgen receptor (AR) mutations in 69 individuals with MAIS.
Comparison of MAIS-associated AR mutations with those in partial and complete AIS phenotypes, analyzing mutation type, location, genotype-phenotype correlation, and functional data.

Conclusions:

MAIS is characterized by a landscape of clinical presentations, frequently associated with male factor infertility.
Androgen receptor (AR) gene sequencing is recommended for male factor infertility investigations, irrespective of external genitalia appearance.
MAIS can co-occur with other conditions, including X-linked spinal and bulbar muscular atrophy (Kennedy disease).