research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
Search
for
Sort by
Research
240-270 / 1000+ results
research Sertoli–Leydig cell tumors: hormonal profile after dynamic test with GnRH analogue: triptorelin represents a useful tool to evaluate tumoral hyperandrogenism
Triptorelin helps evaluate hormone production in Sertoli-Leydig cell tumors.
research Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria
Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
research P-055 MONOZYGOTIC TRANSGENDER MALE TWINS: A CASE REPORT HIGHLIGHTING GENETIC CONCORDANCE IN GENDER DYSPHORIA
Genetics may play a significant role in gender dysphoria.
research A comparative analysis of three explanatory models of mental disorder and a preferred focus of explanation
Steroid cell tumors in the ovary are rare, can produce testosterone causing symptoms, and are mainly treated with surgery.
research Proliferating Trichilemmal Tumor Presenting as a Scrotal Mass in a Middle-Aged Male: An Uncommon Location
A rare benign tumor was found in a man's scrotum, highlighting the need for accurate diagnosis.
research 5-Alpha-reductase deficiency in a Saudi "girl"
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
research Serum concentrations of dihydrotestosterone are associated with symptoms of hypogonadism in biochemically eugonadal men
Higher DHT levels are linked to fewer hypogonadism symptoms in men with normal testosterone levels.
research SAT-213 Late Diagnosis of Complete Androgen Insensitivity
A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research PMON281 PERSISTENT VIRILIZATION AND VASOMOTOR SYMPTOMS IN A TRANSMAN 5-YEARS POST TESTOSTERONE WITHDRAWAL
A transman experienced lasting virilization symptoms after stopping testosterone, which were resolved with estradiol treatment.
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 Hypogonadism as a Reversible Cause of Torsades de Pointes in Men
Low testosterone can cause a heart rhythm problem in men, but fixing it can prevent the issue.
research Management of neonates and children with male pseudohermaphroditism
Individuals with male pseudohermaphroditism often do better raised as females with early surgery.
research Daily subcutaneous testosterone for management of testosterone deficiency
Daily subcutaneous testosterone effectively restores testosterone levels in men.
research SUN-069 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 ODP408 Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: a Case of Male PCOS
A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
research AN ATTEMPT TO ASSESS THE MAGNITUDE OF ENDOGENOUS ANDROGEN PRODUCTION IN A CASE OF THE ADRENOGENITAL SYNDROME*
A 17-year-old female with adrenogenital syndrome produces very high levels of androgens, which prevent complete feminization despite high estrogen doses.
research Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
TTD symptoms vary widely, requiring thorough evaluations.
research Case 1: Clitoromegaly, Oligomenorrhea, and Hirsutism in a 17-year-old Transgender Male
Parental support and gender-affirming care are crucial for the mental health of transgender adolescents.
research SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome
Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
research Rare virilizing tumor: ovarian steroid cell tumor, not otherwise specified: a case report
A 20-year-old woman was found to have a rare ovarian tumor causing symptoms like acne and a low-pitched voice, which disappeared after the tumor was removed.
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 Testosterone regulates levels of cystic fibrosis transmembrane regulator, adenylate cyclase, and cAMP in the seminal vesicles of orchidectomized rats
Testosterone boosts fluid and electrolyte secretion in seminal vesicles, aiding sperm function.
research Development of prostate cancer in a patient with primary hypogonadism: intratumoural steroidogenesis in prostate cancer tissues
Prostate cancer can progress even with low testosterone due to internal hormone production in the tumor.
research MON-336 Ovaries Reveal Their Inner Testes
A woman's severe male-like symptoms were caused by a rare, benign tumor in her ovary that produced male hormones.
research Canine Sertoli cell tumor: anti-Müllerian hormone, inhibin B, and estrone sulphate
The dog's skin condition improved after removing a tumor that was causing hormone imbalances.
research 2022-RA-705-ESGO Ovarian Leydig Cell Tumor: Cause of Virilization in a Postmenopausal Woman
A rare, non-cancerous ovarian tumor was successfully treated with surgery, improving the patient's symptoms.
research A rare case of poorly-differentiated endometrial carcinoma in a female-to-male transgender man on testosterone therapy
Transgender men on testosterone therapy need ongoing gynecologic care due to potential cancer risks.