research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
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360-390 / 1000+ resultsresearch Acrodermatitis enteropathica: Case report analyses of zinc metabolism electron microscopic examination and immune function
Zinc supplementation effectively treats acrodermatitis enteropathica symptoms.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Presence of polycystic ovary syndrome is associated with longer anogenital distance in adult Mediterranean women
Women with polycystic ovary syndrome tend to have a longer distance between the clitoris and anus.
research Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research Evaluation of Premature Pubarche Cases: A Single CenterExperience
Careful diagnosis is crucial for premature pubarche, as 20% of cases have other conditions.
research Pathogenesis of pili annulati
Pili annulati is caused by a protein metabolism disorder affecting hair structure.
research Endometrioid adenofibroma arising in an endometriotic cyst
A woman's pelvic pain and bleeding led to finding and successfully treating a rare benign tumor in her reproductive system.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research SAT-214 Satoyoshi Syndrome: A Rare Cause of Premature Ovarian Failure
Satoyoshi syndrome can occur without causing premature ovarian failure.
research Mister XX
Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
research Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia
Congenital atrichia with papular lesions causes permanent hair loss in children.
research Alopecia in a 19-Month-Old Boy
A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.
research (26) Acne due to congenital adrenal hyperplasia
Hormonal imbalances in congenital adrenal hyperplasia cause acne.
research Familial Sexual Precocity
Familial sexual precocity in girls may be more common than previously thought.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
research Maternal androgen excess induces cardiac hypertrophy and left ventricular dysfunction in female mice offspring
High levels of male hormones in pregnant mice cause heart enlargement and poor heart function in their female babies.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Atrichia congenita with papular lesions: A rare cause of pediatric alopecia
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
research Abnormal inner root sheath of the hair follicle in the loose anagen hair syndrome: An ultrastructural study
Loose anagen hair syndrome is caused by structural abnormalities in the hair follicle's inner root sheath.
research Gynecomastia and Premature Thelarche
Gynecomastia and premature thelarche often resolve naturally but need evaluation to rule out serious issues.
research Atrichia and Papular Lesions: Report of a Case
A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
research Characterization of pubertal development of girls in rural Bangladesh
Rural Bangladeshi girls mature later than peers in other low and middle-income countries due to poor nutrition and socioeconomic conditions.
research The disintegrin/metalloproteinase Adam10 is essential for epidermal integrity and Notch-mediated signaling
Adam10 enzyme is crucial for healthy skin and proper Notch signaling.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research Menstrual Cycle Alterations during Adolescence: Early Expression of Metabolic Syndrome and Polycystic Ovary Syndrome
Irregular menstrual cycles in teenagers are linked to a higher risk of polycystic ovary syndrome and metabolic syndrome.
research Specific morphogenetic events in mouse external genitalia sex differentiation are responsive/dependent upon androgens and/or estrogens
Mouse genital development depends on male or female hormones for specific features.
research Congenital atrichia associated with nevus flammeus: A rare association
A person was born with both a rare hairless condition and a type of birthmark, which is an uncommon combination.