research Steroid 17β-hydroxysteroid dehydrogenase deficiency in man: An inherited form of male pseudohermaphroditism
Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
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90-120 / 1000+ resultsresearch Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
research Progressively intractable seizures, focal alopecia, and hemimegalencephaly
The boy had a unique condition with seizures, uneven hair loss, and an enlarged brain hemisphere.
research Visual Diagnosis: An Adolescent Female Who Has Increasing Hair Growth
The girl has a hormonal imbalance causing increased hair growth and other male characteristics.
research MON-080 Cushing Disease Secondary To Rathke’s Cleft Cyst
Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.
research Polycystic Ovary Syndrome (PCOS) Presenting with Delayed Menarche and Clitoromegaly
PCOS can cause unusual symptoms like late puberty and enlarged clitoris, making diagnosis difficult.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Ovarian hyperthecosis coexisting with an incidental adrenal lesion: challenges in the diagnostic approach
Using GnRHa agonists helps diagnose and treat ovarian hyperthecosis when surgery isn't possible.
research MALE PSEUDOHERMAPHRODITISM DUE TO 17β-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY: STUDIES ON THE NATURAL HISTORY OF THE DEFECT AND EFFECT OF ANDROGENS ON GENDER ROLE
Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
research Ectoderm-Targeted Overexpression of the Glucocorticoid Receptor Induces Hypohidrotic Ectodermal Dysplasia
Overexpression of the glucocorticoid receptor in mice causes developmental defects similar to ectodermal dysplasia.
research Alopecia universalis and Kallman’s Syndrome
A woman with Kallman's syndrome also developed alopecia universalis, a condition not previously linked to Kallman's.
research Abstract 14
A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
research Acne, Hirsutism, and Alopecia in Adolescent Girls: Clinical Expressions of Androgen Excess
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 ROLLED HAIRS AND HYPERTRICHOSIS
A 15-year-old girl with hypothyroidism had excess hair and skin issues due to blocked hair follicles.
research FRI220 Primary Bilateral Macronodular Adrenal Hyperplasia: A Rare Cause Of Cushing Syndrome
A rare case of Cushing syndrome was successfully treated with one-sided adrenal gland removal, suggesting personalized treatment is important.
research An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
research clinical, laboratory and trichoscopic features of pediatric androgenetic alopecia: a retrospective analysis in 133 patients
Pediatric androgenetic alopecia is linked to obesity, family history, hormonal imbalances, and requires personalized treatment including managing comorbidities.
research Hyperandrogenism in a postmenopausal woman: a rare case of ectopic adrenal cortical gland
A postmenopausal woman's excess male hormone symptoms were caused by a rare adrenal gland tissue in her ovary.
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 Virilizing adrenocortical oncocytoma in a toddler
A toddler with a rare adrenal gland tumor causing male-like physical changes was successfully treated with surgery.
research PMON325 Rare Presentation of Precocious Puberty Secondary to LH-Secreting Adenoma
An 8-year-old boy's early puberty was caused by a rare hormone-secreting brain tumor, which was successfully treated with surgery.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
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 Morphological and morphometric study of the androgenetic alopecic scalp using two- and three-dimensional analysis comparing regional differences
The study found that balding scalps have more thin hairs and larger oil glands, which might contribute to skin conditions related to hair loss.
research Hybrid Eccrine Gland and Hair Follicle Hamartoma
A rare skin growth in a baby was successfully removed without coming back.
research PMON319 A Pure Androgen Secreting Adrenal - Cortical Tumor in a 13 Year Old Female
A 13-year-old girl's masculine symptoms improved after surgery for a rare adrenal tumor that produced male hormones.
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.