Isotretinoin-Unresponsive Acne as a Sign of a Congenital Disorder: A Case of 21-Hydroxylase Deficiency

August 2023 in “ Dermatology Reports ”

Elisa Marzola, Vincenzo Bettoli

isotretinoin acne 21-hydroxylase deficiency congenital adrenal hyperplasia androgen metabolism anomalies hormonal work-up Accutane hormonal imbalance

TLDR Acne not improved by usual treatments may indicate a genetic disorder.

The document discusses a case of an 18-year-old male patient with acne that was unresponsive to traditional acne therapies, including oral isotretinoin. Upon further investigation through endocrinology consultation and hormonal work-up, it was discovered that the patient had androgen metabolism anomalies indicative of a non-classical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. This suggests that in some cases, acne unresponsive to conventional treatments could be a sign of an underlying congenital disorder.

View this study on pagepress.org →

Discuss this study in the Community →

Research cited in this study

2 / 2 results

research Is Hormonal Treatment Still an Option in Acne Today?

31 citations, June 2015 in “British Journal of Dermatology”

Hormonal treatments are effective as a second-line option for moderate-to-severe acne in females, but should be used with caution due to health risks.

research Hormone Therapy in Acne

24 citations, January 2013 in “Indian Journal of Dermatology, Venereology and Leprology”

Hormonal treatment is effective for women with acne not helped by usual treatments, especially if they have hormonal imbalances.

Related Community Posts Join

6 / 37 results

community Nine Month Progress: Bless The Person Who Developed Finasteride And Minoxidil (20M)

in Progress Pictures 592 upvotes 1 year ago

A user shared a nine-month hair regrowth progress using 5mg oral Minoxidil and 1.25mg oral Finasteride daily, with noticeable improvement and no side effects, despite a high-protein diet, occasional smoking, and regular exercise. They also mentioned using keto shampoo and having naturally increased body hair by about 10%.

community What else is good. Besides the big 3.

in Chat 34 upvotes 2 months ago

Key treatments for hair preservation include minoxidil, finasteride/dutasteride, and microneedling, with additional options like specific shampoos, oils, biotin, zinc, tretinoin, clascoterone, and low-level laser therapy. Maintaining a healthy lifestyle, reducing stress, and addressing nutrient deficiencies can also support hair health.

community Diffuse hair loss and scalp biopsies

in Research 692 upvotes 4 months ago

Scalp biopsies are crucial for diagnosing hair loss conditions like Diffuse Unpatterned Alopecia (DUPA) and retrograde hair loss, as treatments like finasteride and dutasteride may not be effective if other conditions are present. Combining PPAR-GAMMA agonists with retinoids could improve treatments for conditions like Lichen Planopilaris.

community Boys I am just a gonner. What on earth is my scalp even going through. Looks like world war 3. Pyril 3 months. Topical melitonin/progesterone/fin, dut, fin, oral min, laser trash, anus stimulation. Nothing. Donor area is decimated 😂.

in Progress Pictures 83 upvotes 2 years ago

Treating Seborrheic Dermatitis, a fungal scalp condition which can cause hair loss. Treatments discussed include antifungal shampoos, cold showers, exfoliating the scalp, taking Vitamin D, and stimulating the prostate through the anus.

community Female diffuse hair loss on spiro with irregular periods (photos) + genetic hair loss

in Female 17 upvotes 2 months ago

A 34-year-old woman is experiencing diffuse hair loss and irregular periods, possibly due to long-term spironolactone use. She is considering minoxidil and finasteride for treatment and seeking medical advice for androgenic alopecia and hormonal imbalances.

community 1 year on Finasteride, 2 months on derma rolling and minoxidil

in Progress Pictures 75 upvotes 1 year ago

The user has been on Finasteride for over a year and recently added minoxidil and derma rolling to their regimen, experiencing side effects like headaches and acne for a few weeks. They tried various non-medication treatments for early-stage hair loss with no success before turning to medication, which improved their hair and confidence.

Similar Research

5 / 1000+ results

research Acne

2 citations, May 2011 in “Harper's Textbook of Pediatric Dermatology”

Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.

research Is Acne a Sign of Androgen Excess Disorder or Not?

21 citations, January 2017 in “European Journal of Obstetrics & Gynecology and Reproductive Biology”

Acne is an important sign of androgen excess disorders in women.

research Endocrine Disorders and Hormonal Therapy for Adolescent Acne

5 citations, May 2017 in “Current Opinion in Pediatrics”

Hormonal therapies are safe and effective for treating acne in female adolescents, with specific treatments for those with endocrine disorders.

research Evidence-Based Approach to Cutaneous Hyperandrogenism in Women

42 citations, July 2015 in “Journal of The American Academy of Dermatology”

The conclusion is that oral contraceptives and antiandrogens can treat hirsutism and acne in women with cutaneous hyperandrogenism, but more research is needed for effective treatments, especially for hair loss.

research Acne-Associated Syndromes

January 2019 in “Springer eBooks”

Acne is linked to inflammation and insulin resistance, and is associated with various syndromes that require different treatments.