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Many children and teens referred to gender services receive hormone treatments, but more research is needed on their long-term care and outcomes.

A rare genetic mutation found in an Indian family can be detected through prenatal screening.

A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.

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

A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.

Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.

Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.

Palmaris longus muscle absence is uncommon and not linked to gender, hand side, or finger ratio.

Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.

A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.

Monilethrix causes different levels of hair loss in family members.

More research is needed on the safety of fathers' drug exposure before conception.

Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

Family members of North Indian women with PCOS have a high rate of metabolic syndrome.

Diagnosing PCOS in teenagers should focus on signs of excess male hormones and not rely solely on ovarian ultrasound or irregular periods, and should be reassessed in adulthood.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.

The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.

H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.

Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.

Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.

Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.

A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.

A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.

A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.

Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.

Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.