Endocrine Genetic Conditions

Endocrine Genetic Conditions

Adrenal gland conditions
Androgen Insensitivity Syndrome [Androgen Resistance Syndrome, Testicular Feminization Syndrome, Feminizing Testes Syndrome, Male Pseudo-hermaphroditism, Morris's Syndrome (CAIS), Goldberg-Maxwell Syndrome, Reifenstein Syndrome (PAIS), Gilbert-Dreyfus Syndrome, Lubs Syndrome]
Ambiguous sex syndromes (Adrenal Virilism, Adrenogenital Syndrome, 21-Hydroxylation Deficiency, 11-Beta Hydroxylase Deficiency, 3-Beta Hydroxysteroid Dehydrogenase Deficiency, 17 Alpha Hydroxylase Deficiency with 17, 20-Lyase Deficiency, 17-Beta Hydroxysteroid Deficiency, 17-Ketosteroid Reductase Deficiency, Cholesterol Desmolase Deficiency, Lipoid Hyperplasia-Male Pseudohermaphroditism)
Anorchidism
Cancer involving endocrine system (multiple endocrine neoplasia, von Hippel-Lindau syndrome, etc.)
Chromosome Anomalies involving the X or Y chromosome [sex chromosome anomalies, Klinefelter syndrome (XXY, other), Turner syndrome (XO, other), etc.]
Diabetes mellitus
Diabetes insipidus
Dwarfism / Short Stature (Achondroplasia, Jeune Syndrome [Asphyxiating Thoracic Dystrophy], multiple exostoses, hormonal short stature, other forms)
Endocrine Neoplasia and Hormonal Disorders, hereditary tumors, including Multiple Endocrine Neoplasia, type 2, Anderson Cancer Center, Houston, TX
Evaluation of the Newborn With Developmental Anomalies of the External Genitalia (RE9958), Policy Statement, Pediatrics Volume 106, Number 01, July 2000, pp 138-142, American Academy of Pediatrics, Committee on Genetics, Section on Endocrinology, Section on Urology
Metabolic conditions
Miscarriage, stillbirth, infant death
Multiple Endocrine Neoplasia, Information Sheet, Massachusetts General Hospital, Boston
Familial Medullary Thyroid Carcinoma: A Guide for Affected Families, RF Gagel, M.D., M.D. Anderson Cancer Center, Houston, TX
Multiple Endocrine Neoplasia Type 1, National Institute of Diabetes and Digestive and Kidney Diseases.
Genetic testing for MEN II, Anderson Cancer Center, Houston, TX
Polycystic Ovaries / Stein-Leventhal Syndrome Web Ring - resources and web sites
Too soon Terry, Precocious Puberty, for kids, parents, physicians, Lupron Depot-PED®
von Hipple Lindau Syndrome Information

Also See:

Genetic Conditions / Rare Conditions web sites: lists of genetic conditions and rare conditions, national, international and other resources
Surfing the Web for Information on Genetic and Hormone Disorders, Vanderbilt University School of Medicine Nashville, TN
Cancer and Genetics Sites, including those of endocrine glands
Endocrine Links for patients and families, Children's Hospital, British Columbia, Canada
Patient Education Links, Endocrine Society
The Impact of The Human Genome on Endocrinology, 2002 national meeting, Endocrine Society
Nephrogenic Diabetes Insipidus Foundation
The Pituitary Foundation, PO Box 1944, Bristol, BS99 2UB, United Kingdom, Tel/fax: 0870 774 3355. E-mail: helpline@pituitary.org.uk

To locate a genetic counselor or clinical geneticist in your area:

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