research Rickets with alopecia: An inborn error of vitaminD metabolism
Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
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research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
research Abstract 14
A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
research FRI334 A Case Of Delayed Onset Sheehan's Syndrome With Diabetes Insipidus
A woman was diagnosed with Sheehan's syndrome and a rare complication of diabetes insipidus 33 years after symptoms began, improving with hormone therapy.
research Newborn screening for biotinidase deficiency: pilot study and follow-up of identified cases
Newborn screening for biotinidase deficiency is effective in preventing severe complications.
research TRAPPED IN THE HYPOGLYCEMIA LOOP
Early advanced therapies are crucial for better survival in aggressive insulinoma cases.
research Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes
Excessive body hair can signal complex health issues.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
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 Delayed Puberty
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research A 36-Year-Old Woman With an Unexpected Cause of Hypokalemia
A 36-year-old woman with low potassium levels was found to have Cushing disease, and after treatment, her potassium levels normalized.
research Familial Cortisol Resistance: Differential Diagnostic and Therapeutic Aspects
The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.
research Aromatase deficiency in a male patient - Case report and review of the literature.
A male with aromatase deficiency improved bone health with estradiol treatment.
research Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells
Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
research SAT378 Unusual Case of Hirsutism From Prolactinoma Induced Dihydrotestosterone Elevation
A woman's excessive hair growth was linked to a rare case of high testosterone caused by a prolactin-producing pituitary tumor.
research Vitamin D Dependent Rickets Type II with Alopecia
A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
research Disrupted Pancreatic Exocrine Differentiation and Malabsorption in Response to Chronic Elevated Systemic Glucocorticoid
High glucocorticoids cause pancreatic malfunction and malabsorption, reversible with enzyme supplements.
research Protein deficiency in a colony of western lowland gorillas (Gorilla g. gorilla)
Gorillas in Gabon improved after protein supplements were added to their diet.
research Treatment of Satoyoshi syndrome: a systematic review
Corticosteroids are the most effective treatment for Satoyoshi syndrome.
research Tryptophan Missense Mutation in the Ligand‐Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25‐Dihydroxyvitamin D
A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
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 Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.
research Hyperandrogenism in a set of triplets with modification of clinical course by hyperthyroidism
Hyperthyroidism can hide signs of high androgen levels in females.
research Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
research Gonadal dysgenesis and bone metabolism
Gonadal dysgenesis, like Turner's and Klinefelter's syndromes, negatively affects bone health, but hormone treatments can help.
research Chicken scratches.
Biotinidase deficiency can be easily diagnosed and treated with biotin to prevent serious harm.
research High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy
Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
research Myotonic dystrophy type 1
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research A forgotten and hidden disease
The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.