title: Ovarian insufficiency in congenital lipoid adrenal hyperplasia begins in infancy.
abstract: The aim of the present study was to investigate ovarian function in a 46,XX female patient with congenital lipoid adrenal hyperplasia (lipoid CAH) during infancy and childhood. We measured serum gonadotropin and estradiol levels regularly from 6 months to 10.9 years of age. Serum FSH levels were clearly elevated during the first 2 years of life; they decreased gradually until the age of 5 years and they then fell into the normal range for a prepubertal female. Serum LH levels were elevated until the age of 2 years and they then fell into the normal range. Serum estradiol levels were always in the normal prepubertal range. Pelvic ultrasonography performed at the age of 9 months and at 9.8 years of age showed normal uterine and ovarian morphology for a prepubertal female. In conclusion, our data suggest that ovarian insufficiency in lipoid CAH begins in infancy.
authors.affiliation: Endocrinology Clinic, Penteli Children's Hospital, Athens, Greece. anpapad@med.uoa.gr
authors.forename: Anastasios
authors.initials: A
authors.lastname: Papadimitriou
authors.forename: Ioanna
authors.initials: I
authors.lastname: Fountzoula
authors.forename: Polyxeni
authors.initials: P
authors.lastname: Nicolaidou
authors.forename: Georgia
authors.initials: G
authors.lastname: Tzortzatou
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000150:complications* / Q000235:genetics; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D050356:Lipid Metabolism; D008064:Lipidoses / Q000097:blood / Q000150:complications / Q000235:genetics; D007986:Luteinizing Hormone / Q000097:blood; D010049:Ovarian Diseases / Q000097:blood / Q000150:complications* / Q000235:genetics; D010053:Ovary / Q000503:physiopathology*; D010750:Phosphoproteins / Q000235:genetics*; D011627:Puberty / Q000097:blood*; D000098682:Steroidogenic Acute Regulatory Protein
chemical_list: D010750:Phosphoproteins; D000098682:Steroidogenic Acute Regulatory Protein; D004958:Estradiol; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone