research Management of Congenital Adrenal Hyperplasia During Pregnancy
With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
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research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Effects of Pre- and Post-Pubertal Dihydrotestosterone Treatment on Penile Length in 5α-Reductase Type 2 Deficiency
Dihydrotestosterone treatment can help penis growth in boys with 5α-reductase deficiency but doesn't fully normalize size after puberty.
research Papillon-Lefèvre Syndrome: A Rare Case Report and a Brief Review of Literature
Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
research Testosterone And Dihydrotestosterone Production In Genetically Furless And Furred Male Rabbits And Effects On Growth
Furless male rabbits grew slightly faster and heavier than furred ones, but testosterone levels were not the cause.
research A Splice Variant in KRT71 Is Associated with Curly Coat Phenotype of Selkirk Rex Cats
A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
research Further Clinical Evidence for the Effect of IGF-1 on Hair Growth and Alopecia
IGF-1 may affect hair growth and loss, but more research is needed to confirm effective and safe treatments.
research Misdiagnosis as Asphyxiating Thoracic Dystrophy and CMV-Associated Hemophagocytic Lymphohistiocytosis in Shwachman-Diamond Syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research Trichoblastoma with Sebaceous and Sweat Gland Differentiation
A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.
research Lamellar Ichthyosis with Pseudoexon Activation in the Transglutaminase 1 Gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Androgenetic Alopecia in Heterozygous Carriers of a Mutation in the Human Hairless Gene
Mutation in hairless gene may increase hair loss risk.
research Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Due to AIRE T16M Mutation in a Consanguineous Greek Girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Congenital Atrichia Associated with Situs Inversus and Mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research The Cycle Characteristics and Outcomes of Infertile Nonclassic 21-Hydroxylase Deficiency Patients Undergoing Ovarian Stimulation for In Vitro Fertilization
Women with nonclassic 21-hydroxylase deficiency can have successful pregnancies through IVF, with certain factors affecting their chances.
research Atrichia with Papular Lesions in a Taiwanese Patient Without Hairless (HR) Gene Mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research A Novel Homozygous Variant in the DSP Gene Underlies the First Case of Non-Syndromic Form of Alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Androgenetic Alopecia in Heterozygous Carriers of a Mutation in the Human Hairless Gene
Mutation in hairless gene may increase hair loss risk.
research The Role of Astrotactin2 in Regulating Mammalian Skin Polarity
Astrotactin2 affects hair follicle orientation and skin cell polarity.
research RANK as a Therapeutic Target in Cancer
RANK is a key target in breast cancer treatment due to its role in tumor growth and bone metastasis.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Signal Transducer and Activator of Transcription 5B Deficiency Due to a Novel Missense Mutation in the Coiled-Coil Domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Hair Graying and Loss Induced by Imatinib Mesylate
A woman's hair turned gray and fell out after starting a cancer drug called imatinib mesylate.
research Woodhouse-Sakati Syndrome: A Case Study of Three Saudi Sisters
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research A Study on the Efficacy of Oral Zinc Therapy for the Treatment of Acrodermatitis Enteropathica
Oral zinc therapy is effective for treating acrodermatitis enteropathica.
research Hair Shaft Structures in EDAR Induced Ectodermal Dysplasia
The EDAR gene mutation leads to thinner and more deformed hair shafts.
research Acquired Acrodermatitis Enteropathica in a 28-Year-Old Male with Type 1 Diabetes
A 28-year-old man with type 1 diabetes had skin and hair issues due to zinc deficiency.
research Hypoparathyroidism as the Single Major Component for Decades of Autoimmune Polyglandular Syndrome Type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Systemic Lupus Erythematosus and Vitamin D Deficiency in an Adult Sudanese Patient with Sickle Cell Trait
A patient with sickle cell trait and low vitamin D might have lupus, a rare combination that needs more attention.
research The Role of Mimicking Growth Factors to Control Anagen Phase: Evaluation In Vitro and In Vivo
Mimicking growth factors in a topical solution can prolong hair growth phase and reduce hair loss without side effects.
research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.