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Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.

Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.

The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.

The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.

Excessive body hair can signal complex health issues.

Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.

Some hair loss disorders are caused by genetic mutations affecting hair growth.

The surgery for severe congenital ptosis in children is safe and effective, with good long-term results.

Minoxidil use during pregnancy can cause excessive hair growth and multiple birth defects in the baby.

Congenital Triangular Alopecia is a rare, non-scarring hair loss that can be surgically treated in females for cosmetic reasons.

Congenital alopecia in domestic animals is rare and involves abnormal hair follicle development, needing better understanding and classification.

Some babies are born with alopecia areata, and a treatment with clobetasol propionate can regrow hair in half of the cases.

High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.

Lash ptosis is more common and severe in people with congenital eyelid droop than in those with acquired eyelid droop or without eyelid droop.

The document concludes that diagnosing and treating Congenital Adrenal Hyperplasia is complex and requires a team approach due to its effects on the skin and other symptoms.

The document concludes that eyelash trichomegaly, which is the abnormal growth of eyelashes, can be present from birth, caused by diseases, or result from certain medications.

Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.

The modified Crawford technique resulted in less lagophthalmos and better cosmetic outcomes for patients with lateral droop.

A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.

CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.

Women with congenital adrenal hyperplasia have lower fertility, but with proper treatment, they can conceive successfully.

Some people with congenital triangular alopecia have a central tuft of hair in the bald patch, but the cause is unknown.

Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.

CTA is often mistaken for AA but doesn't respond to steroids and may require hair transplantation.

Gore-Tex is effective for severe congenital ptosis, with the open approach better for no lid crease and the closed approach better for a preserved crease.

Minoxidil cream can safely treat hair loss in kids with ectodermal dysplasia.

Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.