research Central nervous system involvement in autoimmune polyglandular syndrome
Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.
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630-660 / 1000+ resultsresearch Counselling regarding paternal exposures: Can we do better?
We need better information on how fathers' exposures affect pregnancy.
research PMON319 A Pure Androgen Secreting Adrenal - Cortical Tumor in a 13 Year Old Female
A 13-year-old girl's masculine symptoms improved after surgery for a rare adrenal tumor that produced male hormones.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Polycystic Ovary Syndrome
PCOS is a common inherited condition causing cysts, irregular periods, and increased diabetes risk in women.
research Graham-Little Syndrome — a rare entity of both scarring and non-scarring alopecia concomitance
Graham-Little syndrome causes hair loss and skin bumps, with difficult treatment options.
research Diffuse loss of hair with papules
The young man has complete hair loss and skin bumps, with no other health issues or family history.
research Body image and sexual interests in adolescents and young adults with Prader–Willi syndrome
Adolescents and young adults with Prader-Willi syndrome show a range of sexual interests and behaviors.
research Clinical case of a patient with progressive supranuclear palsy – from symptom to diagnosis
Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
research The PCOS Phenotypes in Unselected Populations (P-PUP) study: participant clinical features and data harmonization on analysis of individual participant data
PCOS affects 11% of women, highlighting the need for standardized diagnosis.
research Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
research Management of pregnancy in a carrier of the Donohue mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
research British Society for Paediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
The same gene mutation can cause different symptoms in family members.
research Spangled hair in siblings
Two siblings had a rare hair condition with banded hair, which doesn't need treatment.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research 53289 Clinical and metabolic characteristics of male patients with early-onset androgenetic alopecia: A possible predisposition to metabolic syndrome
Early-onset male baldness may increase the risk of metabolic syndrome.
research Ichthyosis follicularis with alopecia and photophobia syndrome with coexisting palmoplantar keratoderma treated with acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
research Polycystic Ovary Syndrome: Special Diagnostic and Therapeutic Considerations for Children
Early diagnosis and treatment of PCOS in young people is important to prevent long-term health problems.
research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research Pediatric Features of Genetic Predisposition to Polycystic Ovary Syndrome
Genetic risk for PCOS can affect children's growth, metabolism, and development from early life into adulthood.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research Síndrome dos ovários policísticos: correlação dos fenótipos com as manifestações metabólicas
Older age, obesity, hirsutism, and having children increase metabolic risk in women with PCOS.
research PRAME Expression in Mammary and Extramammary Paget Disease
PRAME is often present in Paget disease and could help in diagnosis, but more research is needed.
research A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Pachyonychia congenita is linked to a keratin gene on chromosome 17.
research Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis: a case report with 7-year follow-up
Early intervention and protective measures are crucial for managing CIPA due to the lack of pain and standard treatment.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Unilateral heterochromia of scalp hair with adjacent hypomelanotic skin lesions
The boy's hair and skin color differences are due to a pigmentation disorder.
research Polycystic ovary syndrome in adolescents
Polycystic Ovary Syndrome (PCOS) in teenagers is a complex condition linked to genetics and environment, often associated with obesity and insulin resistance, and is treated with lifestyle changes and medication.
research Fetal Arrhythmia with a Myriad of Complications
Early diagnosis and management of congenital heart block in mothers with autoimmune conditions are crucial for improving neonatal outcomes.