research An Unusual Cause of Primary Amenorrhea
The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
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research Updates to Male Infertility: AUA/ASRM Guideline 2024
The 2024 guideline updates recommendations for genetic testing, imaging, and sperm retrieval in male infertility.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research The Laboratory in the Multidisciplinary Diagnosis of Differences or Disorders of Sex Development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research The North American Menopause Society Recommendations for Clinical Care of Midlife Women
The NAMS 2014 recommendations guide healthcare providers on treating health issues in midlife women, emphasizing individualized care and informed decision-making.
research Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor Surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research One of These Things Is Not Like the Others: The Idea of Precedence in Health Technology Assessment and Coverage Decisions
The conclusion is that formalizing how past decisions influence current health technology assessments could improve the credibility and defense of coverage decisions.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Evaluation of Female Fertility: AMH and Ovarian Reserve Testing
AMH helps estimate ovarian reserve but doesn't predict pregnancy chances; age is more important.
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 The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Current Evaluation of Amenorrhea
Amenorrhea is relatively rare and initial testing should check FSH, TSH, and prolactin levels.
research TCL1 Transgenic Mouse Model as a Tool for the Study of Therapeutic Targets and Microenvironment in Human B-Cell Chronic Lymphocytic Leukemia
The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
research Immunological Profile of Patients with Down Syndrome and Alopecia Areata
Down Syndrome patients with Alopecia Areata often have hypothyroidism and specific immune abnormalities.
research Management of the Female With Non-Classical Congenital Adrenal Hyperplasia: A Patient-Oriented Approach
The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
research The First Visit: Consultation and Workup Before Sperm Banking
A thorough initial check-up is essential before sperm banking to ensure the best chance of preserving good quality sperm.
research A 14-Year-Old Female with Primary Amenorrhea
A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
research A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research What Should It Take to Describe a Substance or Product as 'Sperm-Safe'?
Products should be called 'sperm-safe' only after thorough, well-designed tests.
research A Rare Case of Isolated Pulmonary Involvement in Lymphoid Variant Hypereosinophilic Syndrome
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
research Hirsutism in Adolescent Females
The conclusion is that young women with excessive hair growth should be quickly tested for hormonal issues and treated to improve their social well-being.
research A 10 Mb Duplication in Chromosome Band 5q31.3–5q33.1 Associated with Late-Onset Lipodystrophy, Ichthyosis, Epilepsy, and Glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
research Delayed Puberty: Diagnosis and Management of Congenital Idiopathic Hypogonadotropic Hypogonadism
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research Disorders of Sex Development
DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
research Induced Pluripotent Stem Cell Line MUSIi006-A Derived from Hair Follicle Keratinocytes as a Non-Invasive Somatic Cell Source
Hair samples can be used to create stem cells easily and non-invasively.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research An Early Diagnosis of Trichorhinophalangeal Syndrome Type 1: A Case Report and Review of Literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Evidence-Based Medicine in Obstetrics and Gynecology
Accurate diagnosis and timely, tailored treatments improve outcomes in obstetrics and gynecology.