Late Diagnosis of Complete Androgen Insensitivity

April 2019 in “ Journal of the Endocrine Society ”

Karen Tsai, Tong Liang, Braden Barnett, Jonathan S. LoPresti

Complete Androgen Insensitivity Syndrome CAIS primary amenorrhea elevated testosterone LH FSH 46, XY karyotype bilateral orchiectomy estrogen replacement therapy androgen insensitivity testosterone luteinizing hormone follicle-stimulating hormone karyotype orchiectomy estrogen therapy

TLDR A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.

The article discussed a case of a 31-year-old female diagnosed with Complete Androgen Insensitivity Syndrome (CAIS), a rare condition typically identified at menarche. The patient presented with primary amenorrhea, minimal breast development, sparse body hair, and a shallow vaginal canal. Physical examination and lab results confirmed CAIS, showing elevated testosterone, LH, and FSH levels, and a 46, XY karyotype. The patient underwent bilateral orchiectomy and started estrogen replacement therapy. The case highlighted the importance of early diagnosis for effective management and psychosocial support, noting the psychological distress caused by the late diagnosis. The authors emphasized the need for further research to develop evidence-based guidelines for CAIS treatment.

View this study on academic.oup.com →

Discuss this study in the Community →

Related Community Posts Join

6 / 880 results

community Fun thought experiment about halting hair loss permamently

in Research/Science 58 upvotes 7 months ago

A user proposed genetically engineering scalp stem cells to stop androgen receptors from causing hair loss. Others discussed the feasibility, existing research, and potential issues with this approach, including targeting the correct cells and unintended effects.

community Finasteride doesn't work for me in 2 years and my bloodtest result just came in.

in Progress Pictures 88 upvotes 1 year ago

A user has been treating hair loss with finasteride for two years without success and is experiencing an itchy scalp with seborrhea. Despite low DHT levels, they are still losing hair, suggesting that DHT might not be the main cause of their hair loss, and they are considering other treatments or causes.

community How does dutasteride regrowth work?

in Finasteride/Dutasteride 6 upvotes 7 months ago

A 25-year-old man with hair loss from bleach damage is using oral minoxidil and considering adding Dutasteride for better regrowth and prevention. He seeks advice on Dutasteride's effectiveness and potential benefits over finasteride, and is also curious about RU58841.

community Neck tension, and hair loss, I am 100 percent sure that there is a connection

in Treatment 19 upvotes 7 months ago

The user believes neck tension and poor posture contribute to hair loss, noticing improvements with yoga and muscle relaxation. Replies suggest androgenic alopecia as the cause and recommend exercises.

community Physio-metabolic method of treating androgenic alopecia. Cold receptors. The relationship between DHT, cold receptors, minoxidil and antiandrogens.

in Research/Science 1 upvotes 2 weeks ago

A method for treating androgenic alopecia using minoxidil, antiandrogens, exercise, and cold exposure to promote hair growth. Environmental factors and lifestyle changes, like diet and exercise, can improve treatment effectiveness.

Physio-metabolic method of treating androgenic alopecia. Cold receptors. The relationship between DHT, cold receptors, minoxidil and antiandrogens

community Physio-metabolic method of treating androgenic alopecia. Cold receptors. The relationship between DHT, cold receptors, minoxidil and antiandrogens

in Research 411 upvotes 2 weeks ago

Treating androgenic alopecia with minoxidil, finasteride, and antiandrogens, alongside exercise, cryotherapy, and natural substances to stimulate cold receptors for better hair growth. The method focuses on enhancing treatment effectiveness by considering environmental and behavioral factors and the role of cold receptors and muscle stress.

Similar Research

5 / 1000+ results

research Identification of Two Additional Novel Mutations in the AR Gene Associated with Severe Forms of Androgen Insensitivity Syndrome

1 citations, September 2019 in “Steroids”

Two new mutations in the AR gene linked to severe androgen insensitivity were found.

research An Adolescent Girl Presenting With Primary Amenorrhea: A Case Report of Complete Androgen Insensitivity Syndrome

October 2023 in “IJEM case reports”

A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.

research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome

1 citations, August 2019 in “Journal of pediatric & adolescent gynecology”

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

research Molecular Genetics of Androgen Insensitivity

January 1995 in “Adolescent and pediatric gynecology”

Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.

research An Updated Overview of Polycystic Ovary Syndrome

1 citations, June 2019 in “Innovare journal of medical sciences”

Polycystic Ovary Syndrome (PCOS) is a hormonal disorder in women that can cause infertility and other health issues, and it may be improved by treatments that increase insulin sensitivity.