Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Testosterone: Functions and Regulation01:26

Testosterone: Functions and Regulation

545
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...
545
Gonadal and Placental Hormones01:24

Gonadal and Placental Hormones

1.3K
The gonads, namely the testes in males and the ovaries in females, are pivotal in producing gonadal hormones that orchestrate the intricate processes of sexual development and reproduction.
In males, testosterone is the primary gonadal androgen. It plays a central role in the maturation of male reproductive organs — the penis and testes. Additionally, testosterone is instrumental in the development of secondary sexual characteristics — a deep voice as well as facial and pubic hair...
1.3K
Menopause01:28

Menopause

131
Menopause, a natural biological process marking the end of a woman's fertility, typically occurs between the fifth and sixth decade of life. This phase is characterized by the exhaustion of the ovarian follicle pool, leading to less responsive ovaries despite the high levels of Follicle Stimulating Hormone (FSH) and Luteinizing Hormone (LH). The consequential decrease in estrogen production results in symptoms like hot flashes, heavy sweating, headaches, hair loss, muscle pains, vaginal...
131
Development of the Sexual Organs in the Embryo and Fetus01:15

Development of the Sexual Organs in the Embryo and Fetus

530
Development of the reproductive organs in an embryo starts from a bipotential state. This means the early embryo can develop either male or female reproductive organs. The formation of these organs begins with the growth of gonadal ridges that arise from the intermediate mesoderm during the fifth week of development.
Near the gonadal ridges, two duct systems are present: the mesonephric ducts (Wolffian ducts) and paramesonephric ducts (Müllerian ducts). These ducts form the basis for the...
530
Overview of the Reproductive System01:31

Overview of the Reproductive System

970
The reproductive system generates offspring, ensuring the survival of the species. In humans, the reproductive system is complex and involves a variety of organs and hormones that work together to ensure successful reproduction.
The gonads, or primary reproductive organs, produce gametes and sex hormones. In males, the testes produce spermatozoa and testosterone, which is responsible for developing secondary male sex characteristics, including a deeper voice, larger muscles, facial and body...
970
Adrenal Gland Disorders01:27

Adrenal Gland Disorders

1.3K
Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
1.3K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Machine Learning Algorithms to Accelerate Etiological Diagnosis of Congenital Disorders of Adrenal Steroidogenesis.

The Journal of clinical endocrinology and metabolism·2026
Same author

Long-term clinical outcomes of primary adrenal insufficiency caused by homozygous CYP11A1 p.R451W variant.

European journal of endocrinology·2026
Same author

Determinants of pubertal progression and final height in premature pubarche.

Journal of endocrinological investigation·2026
Same author

International Delphi-based Consensus: Therapeutic Approaches for Pediatric Adrenocortical Carcinoma.

European journal of endocrinology·2026
Same author

Genital surgery in children with differences of sex development (DSD): Strengths and concerns across diverging regulations in four European countries.

Journal of pediatric urology·2026
Same author

German law on protection of children with DSD: first data on care after enactment.

Endocrine connections·2026

Related Experiment Video

Updated: Jun 3, 2025

A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome
08:20

A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome

Published on: October 2, 2018

11.1K

Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency.

Lidewij S Boogers1,2, Hennie T Brüggenwirth3,4, Katja P Wolffenbuttel4,5

  • 1Department of Paediatric Endocrinology, Erasmus University Medical Centre, 3015 GD Rotterdam, The Netherlands.

European Journal of Endocrinology
|January 9, 2025
PubMed
Summary

Individuals with 17β-Hydroxysteroid dehydrogenase 3 deficiency (17β-HSDD) and 5α-reductase type 2 deficiency (5α-RD) often change gender. Delaying gonadectomy until late adolescence is supported by findings of spontaneous puberty and rare germ cell malignancies.

Keywords:
17beta-HSD deficiency5alpha-reductase deficiencydisorder of sex developmentgerm cell cancerhypogonadismpubertytestis

More Related Videos

Visualizing the Interrenal Steroidogenic Tissue and Its Vascular Microenvironment in Zebrafish
07:19

Visualizing the Interrenal Steroidogenic Tissue and Its Vascular Microenvironment in Zebrafish

Published on: December 21, 2016

6.9K
Establishment of Rat Models Mimicking Gender-affirming Hormone Therapies
06:27

Establishment of Rat Models Mimicking Gender-affirming Hormone Therapies

Published on: January 10, 2025

665

Related Experiment Videos

Last Updated: Jun 3, 2025

A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome
08:20

A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome

Published on: October 2, 2018

11.1K
Visualizing the Interrenal Steroidogenic Tissue and Its Vascular Microenvironment in Zebrafish
07:19

Visualizing the Interrenal Steroidogenic Tissue and Its Vascular Microenvironment in Zebrafish

Published on: December 21, 2016

6.9K
Establishment of Rat Models Mimicking Gender-affirming Hormone Therapies
06:27

Establishment of Rat Models Mimicking Gender-affirming Hormone Therapies

Published on: January 10, 2025

665

Area of Science:

  • Endocrinology
  • Genetics
  • Reproductive Medicine

Background:

  • 17β-Hydroxysteroid dehydrogenase 3 deficiency (17β-HSDD) and 5α-reductase type 2 deficiency (5α-RD) are rare 46,XY differences of sex development (DSD).
  • Limited knowledge exists regarding long-term gonadal function and pathology in these conditions.

Purpose of the Study:

  • To investigate long-term gonadal function in patients with 17β-HSDD and 5α-RD.
  • To assess gonadal pathology in individuals with these rare DSDs.

Main Methods:

  • Retrospective multicentre cohort study using data from the I-DSD Registry.
  • Inclusion of patients aged ≥16 years with genetically confirmed 17β-HSDD or 5α-RD.
  • Collection of phenotype, laboratory, hormone treatment, and gonadal pathology data.

Main Results:

  • In 17β-HSDD, all patients were raised female, with one gender change; none had germ cell (pre)malignancies.
  • In 5α-RD, 71% were raised female, with gender changes observed; no germ cell (pre)malignancies were found.
  • Spontaneous puberty occurred with gonads in situ; some patients received hormone treatment.

Conclusions:

  • A significant percentage of individuals with 17β-HSDD and 5α-RD experienced gender changes.
  • Germ cell (pre)malignancies appear uncommon in these conditions until early adulthood.
  • Delaying gonadectomy until late adolescence is supported by these findings.