research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
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240-270 / 1000+ resultsresearch A case of familial trichomegaly with synophrys in association with loose anagen syndrome
A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
research Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
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 Adult Onset Isolated Hypogonadotropic Hypogonadism- a Cause of Secondary Amenorrhea
A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
research LBMON232 A Hairy Situation: Ovarian Sex Cord Stromal Tumor As A Rare Cause Of Hyperandrogenism
A rare ovarian tumor caused high testosterone and excess hair in a woman, which was resolved after tumor removal.
research Graham Little-Piccardi-Lassueur syndrome associated with androgen insensitivity syndrome (testicular feminization)
A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.
research An 88-year-old woman with flushing, alopecia and hirsutism and a Sertoli-Leydig cell tumour
Check hormone levels in older women to find hidden conditions like certain tumors.
research Case Report: Disorder of Sex Development 46, XY with Proximal Hypospadias in a 10-Year-Old Twin Boy: Disorder of Sex Development 46, XY with Proximal Hypospadias
A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
research A rare case of Leydig cell tumor resulting in female pattern hair loss
research Mild Cutaneous Manifestation in Two Young Women with Extraordinary Hyperandrogenemia
Two women with very high androgen levels had only slight skin issues, one due to a non-classical adrenal disorder and the other due to an adrenal tumor.
research Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development
Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
research A LONGITUDINAL STUDY OF PUBERTY IN BOYS
research Gonadal Dysgenesis: Associations between Clinical Features and Sex of Rearing.
Gonadal biopsy is the best method to diagnose gonadal dysgenesis.
research Iatrogenic androgenetic alopecia in a male phenotype 46XX true hermaphrodite
Hormone treatment caused hair loss, finasteride helped regrowth.
research An adolescent girl with coexisting ovarian mature cystic teratoma and HAIR-AN syndrome, an extreme subtype of polycystic ovarian syndrome
A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.
research Sex-Chromosome-Related Dimorphism in Steroidogenic Enzymes and Androgen Receptor in Response to Testosterone Treatment: An In Vitro Study on Human Primary Skeletal Muscle Cells
Chromosomal differences affect how muscle cells respond to testosterone.
research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research Virilization in a postmenopausal woman: Ovarian Leydig cell tumor
A postmenopausal woman's virilization was caused by a rare ovarian tumor that was hard to detect but was successfully treated with surgery.
research A Virilizing Malignant Steroid Cell Tumor-Leydig Cell Subtype in a 24-Year-Old Palestinian Female with Challenging Histopathological and Biochemical Features: A Case Report
A young woman had a rare, aggressive ovarian tumor that was hard to diagnose and treat, leading to disease progression despite treatment.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Male polycystic ovarian syndrome phenotype: a meta-analysis of endocrine-metabolic dysregulation in fathers and brothers of PCOS-affected women
Male relatives of women with PCOS show similar health issues, suggesting a male version of the condition.
research Adrenal and Gonadal Activity, Androgen Concentrations, and Adult Height Outcomes in Boys With Silver-Russell Syndrome
Higher androgen levels during puberty are linked to shorter adult height in boys with Silver-Russell syndrome.
research Case Report: Disorder of Sexual Development in a Chinese Crested Dog With XX/XY Leukocyte Chimerism and Mixed Cell Testicular Tumors
A female dog with mixed male and female traits was treated successfully with surgery.
research Graham Little–Piccardi–Lassueur syndrome in a patient with androgen insensitivity syndrome
research Challenges in diagnosing ovarian sertoli-leydig cell tumors: A Peruvian case series
Diagnosing Sertoli-Leydig cell tumors is challenging due to their unusual symptoms and can occur at any age.
research Serum Androgen Bioactivity in Adolescence: A Longitudinal Study of Boys with Constitutional Delay of Puberty
Testosterone and letrozole treatment speeds up puberty in boys with delayed development.
research POSTMENOPAUSAL HIRSUTISM: A CASE REPORT
A rare ovarian tumor caused a postmenopausal woman to develop male-like features, which improved after surgery.