April 2024 in “International Journal of Advanced Multidisciplinary Research and Studies” Early investigation and a team approach are crucial for managing primary amenorrhea effectively.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
57 citations
,
November 1987 in “Pediatric Dermatology” Children's hair grows in different types from before birth through puberty, with growth rates and characteristics varying by age, sex, and race.
53 citations
,
January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
49 citations
,
March 2018 in “Toxicological sciences” Low doses of mixed chemicals cause permanent reproductive malformations in male rats.
40 citations
,
January 2010 in “Annales D Endocrinologie” The French Endocrine Society suggests diagnosing PCOS with two of three signs, recommends lifestyle changes and clomiphene for treatment, and calls for more research on certain treatments and tests.
36 citations
,
August 2018 in “Dermatologic Clinics” Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
30 citations
,
May 2005 in “Pediatric dermatology” Some families have a genetic condition where they are born with irregular scalp defects.
26 citations
,
September 1990 in “Ophthalmology” The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
21 citations
,
January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
21 citations
,
November 2009 in “Dermatologic Clinics” The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
15 citations
,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
14 citations
,
January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
13 citations
,
January 2019 in “Endocrine journal” Dihydrotestosterone treatment can help penis growth in boys with 5α-reductase deficiency but doesn't fully normalize size after puberty.
12 citations
,
April 2018 in “Revista Brasileira de Ginecologia e Obstetrícia” Women with Systemic Lupus Erythematosus should have closely monitored pregnancies and avoid certain medications to improve their pregnancy outcomes.
11 citations
,
September 2015 in “Medical Principles and Practice” In a Tuscan pediatric clinic, 7.19% of children had hair or scalp disorders, with nonscarring alopecia being the most common.
11 citations
,
September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
10 citations
,
April 2020 in “Clinics in Dermatology” Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
9 citations
,
May 2017 in “Gynecological Endocrinology” Transvaginal hydrolaparoscopy is effective for increasing ovulation and pregnancy rates in women with PCOS who didn't respond to clomiphene.
6 citations
,
August 1991 in “Pediatric Clinics of North America” The document concludes that various hair and scalp disorders in children have specific treatments and proper diagnosis is essential.
5 citations
,
May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
4 citations
,
December 2020 in “Dermatologic Therapy” Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
2 citations
,
June 2022 in “International Journal of Biomedicine” The review suggests a comprehensive approach to treat hirsutism, focusing on hair removal, medication, and managing emotional effects.
2 citations
,
September 2020 in “Schweizer Archiv für Tierheilkunde” Swiss Holstein cattle with curly, short hair carry genes from the Simmental breed.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
1 citations
,
March 2014 in “TURKDERM” Understanding hair follicles can lead to new treatments for hair loss and skin tumors.
1 citations
,
February 2014 in “Hair therapy & transplantation” A baby boy had two types of temporary hair loss at birth, which might be two forms of newborn hair loss combined.
1 citations
,
June 2010 in “Expert Review of Dermatology” Covers common skin issues in kids, their diagnosis, treatment, and need for specialist care.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.