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Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.

PCOS is a hormonal disorder causing symptoms like irregular periods and acne, and increases the risk of diabetes and heart disease.

A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.

The article suggests renaming Polycystic Ovarian Syndrome (PCOS) to "Hyperandrogenic Persistent Ovulatory Dysfunction Syndrome" (HA-PODS) for accuracy and consistency, but no final decision was made.

A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.

A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.

A woman's masculine features were caused by a rare ovarian tumor that produced male hormones.

Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.

Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.

Ayurvedic treatment can effectively improve PCOD symptoms and irregular menstruation.

Enzyme replacement therapy may help alleviate symptoms in complex cases like this.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

Facial hyperpigmentation improved with oral isotretinoin and ivermectin cream after Demodex mites were identified as the cause.

Rapunzel syndrome can show vague symptoms and needs long-term psychiatric care to prevent recurrence.

The study found that imaging might miss small ovarian tumors causing high testosterone, and suggested using certain testosterone levels and treatment responses to identify these tumors.

A woman's small ovarian tumor causing high androgen levels was missed by several scans but found during surgery.

Goserelin injections can effectively manage hyperandrogenism symptoms in postmenopausal women who can't have surgery.

The Locked Cheek Lift is a simple, effective method for cheek and lower eyelid rejuvenation with a high success rate and minimal complications.

A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.

Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.

Following a specific clinical sequence can help diagnose and treat Demodex mites in the eyes.

Ruxolitinib treatment may cause eyelash growth.

A person with thyroid problems had rare, swollen, bald spots on their scalp caused by a condition usually found on the shins.

Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.

Hypertrichosis causes excessive hair growth and needs psychological support due to its impact on self-esteem.

Forehead reduction and orbital contouring are important for satisfactory facial feminization in transgender females, with high satisfaction and low long-term problems.

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.