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A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome

research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome

December 2023 in “American journal of medical genetics. Part A”

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

research Chapter 1: Facial Feminization Surgery: A Global Approach

January 2017

The document recommends a multidisciplinary approach and experience sharing to advance facial feminization surgery as a medical field.

research Eosinophilic Fasciitis Associated With Tryptophan Ingestion

20 citations, February 1991 in “Archives of dermatology”

High doses of tryptophan may cause eosinophilic fasciitis.

Poikiloderma, Hyperpigmentation, Alopecia, Hypohidrosis, Malformed Bones, Lymphedema of the Legs and Decreased Cortisol Level: A New Entity?

research Poikiloderma, Hyperpigmentation, Alopecia, Hypohidrosis, Malformed Bones, Lymphedema of the Legs and Decreased Cortisol Level: A New Entity?

January 2013 in “Journal of dermatology”

A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.

research Metabolic Features of the Reproductive Phenotypes of Polycystic Ovary Syndrome

286 citations, January 2009 in “Human Reproduction Update”

Women with the NIH type of PCOS have more obesity and higher risk of diabetes and heart disease than those with other types of PCOS.

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Community Join

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community My dear dog (M9) is balding...

in Satire 776 upvotes 11 months ago

The conversation is a satirical discussion about a user joking that their dog is balding and needs hair loss treatments like finasteride, with others commenting on the creepiness of an AI-generated image of a dog with human features.

community Dutasteride 3 and a half month update

in Finasteride/Dutasteride 51 upvotes 1 year ago

The user's experience with hair loss treatments such as finasteride, dutasteride, and minoxidil, and how they are affecting their density. Replies to the post suggest different hairstyles and hair transplant options, and provide encouragement for the original poster's situation.

community will long term 5ar inhibition alter my physical appearance?

in Treatment 2 upvotes 5 months ago

A 19-year-old concerned about long-term effects of 5AR inhibitors on physical appearance. They have used finasteride and plan to try dutasteride or RU58841; responses suggest improved skin, hair, and confidence.

community One year of progress (Fin, 1mg)

in Is this regrowth? 281 upvotes 2 weeks ago

The user started finasteride (1mg) a year ago for hair thinning, experiencing stabilization but not significant regrowth. Suggestions included adding minoxidil, microneedling, and considering a hair transplant for improved results.

community Closing in on one year on Min+Fin

in Progress Pictures 747 upvotes 6 months ago

User shared progress after one year using Minoxidil 5% topical and 1 mg Finasteride pills daily, along with vitamin D3 supplements. They experienced significant hair regrowth and are now growing their hair out again.

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