-
1
-
-
70350057027
-
Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence
-
Belgorosky A, Guercio G, Pepe C, et al. Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence. Horm Res 2009;72:321-30.
-
(2009)
Horm Res
, vol.72
, pp. 321-330
-
-
Belgorosky, A.1
Guercio, G.2
Pepe, C.3
-
3
-
-
0031154045
-
Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the p450arom gene: Impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood
-
Mullis PE, Yoshimura N, Kuhlmann B, et al. Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the p450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood. J Clin Endocrinol Metab 1997;82:1739-45.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 1739-1745
-
-
Mullis, P.E.1
Yoshimura, N.2
Kuhlmann, B.3
-
4
-
-
84870417888
-
Impact of estrogen replacement throughout childhood on growth, pituitary-gonadal axis and bone in a 46,xx patient with cyp19a1 deficiency
-
Janner M, Fluck CE, Mullis PE. Impact of estrogen replacement throughout childhood on growth, pituitary-gonadal axis and bone in a 46,xx patient with cyp19a1 deficiency. Horm Res Paediatr 2012; 78:261-8.
-
(2012)
Horm Res Paediatr
, vol.78
, pp. 261-268
-
-
Janner, M.1
Fluck, C.E.2
Mullis, P.E.3
-
5
-
-
0344442680
-
Hypothalamic-pituitaryovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterocygote for two new point mutations of the cyp19 gene
-
Belgorosky A, Pepe C, Marino R, et al. Hypothalamic-pituitaryovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterocygote for two new point mutations of the cyp19 gene. J Clin Endocrinol Metab 2003;88:5127-31.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 5127-5131
-
-
Belgorosky, A.1
Pepe, C.2
Marino, R.3
-
6
-
-
85170152824
-
Physiology and pathology of the female reproductive axis
-
In: Shlomo M, Polonsky KS, Larsen Reed P, Kronenberg HM, eds. Philadelphia: Saunders Elsevier
-
Bulun SE. Physiology and pathology of the female reproductive axis. In: Shlomo M, Polonsky KS, Larsen Reed P, Kronenberg HM, eds. Williams textbook of endocrinology. Philadelphia: Saunders Elsevier; 2011:581-604.
-
(2011)
Williams Textbook of Endocrinology
, pp. 581-604
-
-
Bulun, S.E.1
-
7
-
-
0029944551
-
Measurement of dimeric inhibin b throughout the human menstrual cycle
-
Groome NP, Illingworth PJ, O'Brien M, et al. Measurement of dimeric inhibin b throughout the human menstrual cycle. J Clin Endocrinol Metab 1996;81:1401-5.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 1401-1405
-
-
Groome, N.P.1
Illingworth, P.J.2
O'brien, M.3
-
8
-
-
70350046653
-
Metformin, estrogen replacement therapy and gonadotropin inhibition fail to improve insulin sensitivity in a girl with aromatase deficiency
-
Guercio G, Di Palma MI, Pepe C, et al. Metformin, estrogen replacement therapy and gonadotropin inhibition fail to improve insulin sensitivity in a girl with aromatase deficiency. Horm Res 2009;72:370-6.
-
(2009)
Horm Res
, vol.72
, pp. 370-376
-
-
Guercio, G.1
Di Palma, M.I.2
Pepe, C.3
-
9
-
-
84872960990
-
Growth and hormonal profile from birth to adolescence of a girl with aromatase deficiency
-
Verma N, Jain V, Birla S, et al. Growth and hormonal profile from birth to adolescence of a girl with aromatase deficiency. J Pediatr Endocrinol Metab 2012;25:1185-90.
-
(2012)
J Pediatr Endocrinol Metab
, vol.25
, pp. 1185-1190
-
-
Verma, N.1
Jain, V.2
Birla, S.3
-
10
-
-
0029366218
-
Pubertal maturation of the internal genitalia: An ultrasound evaluation of 166 healthy girls
-
Holm K, Laursen EM, Brocks V, Muller J. Pubertal maturation of the internal genitalia: an ultrasound evaluation of 166 healthy girls. Ultrasound Obstet Gynecol 1995;6:175-81.
-
(1995)
Ultrasound Obstet Gynecol
, vol.6
, pp. 175-181
-
-
Holm, K.1
Laursen, E.M.2
Brocks, V.3
Muller, J.4
-
11
-
-
0036107158
-
Ovarian and uterine sonography in healthy girls between 1 and 13 years old: Correlation of findings with age and pubertal status
-
Herter LD, Golendziner E, Flores JA, et al. Ovarian and uterine sonography in healthy girls between 1 and 13 years old: correlation of findings with age and pubertal status. AJR Am J Roentgenol 2002;178:1531-6.
-
(2002)
AJR Am J Roentgenol
, vol.178
, pp. 1531-1536
-
-
Herter, L.D.1
Golendziner, E.2
Flores, J.A.3
-
12
-
-
0036129557
-
Dimeric inhibins in girls from birth to adulthood: Relationship with age, pubertal stage, fsh and oestradiol
-
Crofton PM, Evans AE, Groome NP, et al. Dimeric inhibins in girls from birth to adulthood: relationship with age, pubertal stage, fsh and oestradiol. Clin Endocrinol (Oxf) 2002;56:223-30.
-
(2002)
Clin Endocrinol (Oxf)
, vol.56
, pp. 223-230
-
-
Crofton, P.M.1
Evans, A.E.2
Groome, N.P.3
-
13
-
-
0034456840
-
Serum inhibin a and inhibin b in healthy prepubertal, pubertal, and adolescent girls and adult women: Relation to age, stage of puberty, menstrual cycle, follicle-stimulating hormone, luteinizing hormone, and estradiol levels
-
Sehested A, Juul AA, Andersson AM, et al. Serum inhibin a and inhibin b in healthy prepubertal, pubertal, and adolescent girls and adult women: relation to age, stage of puberty, menstrual cycle, follicle-stimulating hormone, luteinizing hormone, and estradiol levels. J Clin Endocrinol Metab 2000;85:1634-40.
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 1634-1640
-
-
Sehested, A.1
Juul, A.A.2
Andersson, A.M.3
-
14
-
-
0021871519
-
Pelvic ultrasonography in premenarcheal girls: Relation to puberty and sex hormone concentrations
-
Salardi S, Orsini LF, Cacciari E, et al. Pelvic ultrasonography in premenarcheal girls: relation to puberty and sex hormone concentrations. Arch Dis Child 1985;60:120-5.
-
(1985)
Arch Dis Child
, vol.60
, pp. 120-125
-
-
Salardi, S.1
Orsini, L.F.2
Cacciari, E.3
-
15
-
-
0028007173
-
Estrogen levels in childhood determined by an ultrasensitive recombinant cell bioassay
-
Klein KO, Baron J, Colli MJ, et al. Estrogen levels in childhood determined by an ultrasensitive recombinant cell bioassay. J Clin Invest 1994;94:2475-80.
-
(1994)
J Clin Invest
, vol.94
, pp. 2475-2480
-
-
Klein, K.O.1
Baron, J.2
Colli, M.J.3
-
16
-
-
77958507048
-
Development of a second generation inhibin b elisa
-
Kalra B, Kumar A, Patel K, et al. Development of a second generation inhibin b elisa. J Immunol Methods 2010;362:22-31.
-
(2010)
J Immunol Methods
, vol.362
, pp. 22-31
-
-
Kalra, B.1
Kumar, A.2
Patel, K.3
-
17
-
-
56749173319
-
Sonographic assessment of uterine and ovarian development in normal girls aged 1 to 12 years
-
Badouraki M, Christoforidis A, Economou I, et al. Sonographic assessment of uterine and ovarian development in normal girls aged 1 to 12 years. J Clin Ultrasound 2008;36:539-44.
-
(2008)
J Clin Ultrasound
, vol.36
, pp. 539-544
-
-
Badouraki, M.1
Christoforidis, A.2
Economou, I.3
-
18
-
-
0025772011
-
A new cause of female pseudohermaphroditism: Placental aromatase deficiency
-
Shozu M, Akasofu K, Harada T, Kubota Y. A new cause of female pseudohermaphroditism: placental aromatase deficiency. J Clin Endocrinol Metab 1991;72:560-6.
-
(1991)
J Clin Endocrinol Metab
, vol.72
, pp. 560-566
-
-
Shozu, M.1
Akasofu, K.2
Harada, T.3
Kubota, Y.4
-
19
-
-
0027133452
-
Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries
-
USA
-
Ito Y, Fisher CR, Conte FA, et al. Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. Proc Natl Acad Sci USA 1993;90:11673-7.
-
(1993)
Proc Natl Acad Sci
, vol.90
, pp. 11673-11677
-
-
Ito, Y.1
Fisher, C.R.2
Conte, F.A.3
-
20
-
-
0028792229
-
Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens
-
Morishima A, Grumbach MM, Simpson ER, et al. Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J Clin Endocrinol Metab 1995;80:3689-98.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 3689-3698
-
-
Morishima, A.1
Grumbach, M.M.2
Simpson, E.R.3
-
21
-
-
0001878449
-
Female pseudohermaphroditism resulting from aromatase (p450arom) deficiency associated with a novel mutation (r457x) in the cyp19 gene
-
Portrait-Doyen S, Forest MG, Nicolino M, et al. Female pseudohermaphroditism resulting from aromatase (p450arom) deficiency associated with a novel mutation (r457x) in the cyp19 gene. Horm Res 1996;46(suppl 2), 14.
-
(1996)
Horm Res
, vol.46
, pp. 14
-
-
Portrait-Doyen, S.1
Forest, M.G.2
Nicolino, M.3
-
22
-
-
0031726118
-
Female pseudohermaphroditism associated with a novel homozygous g-to-a (v370-to-m) substitution in the p-450 aromatase gene
-
Ludwig M, Beck A, Wickert L, et al. Female pseudohermaphroditism associated with a novel homozygous g-to-a (v370-to-m) substitution in the p-450 aromatase gene. J Pediatr Endocrinol Metab 1998;11:657-64.
-
(1998)
J Pediatr Endocrinol Metab
, vol.11
, pp. 657-664
-
-
Ludwig, M.1
Beck, A.2
Wickert, L.3
-
23
-
-
33947539992
-
Variable phenotypes associated with aromatase (cyp19) insufficiency in humans
-
Lin L, Ercan O, Raza J, et al. Variable phenotypes associated with aromatase (cyp19) insufficiency in humans. J Clin Endocrinol Metab 2007;92:982-90.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 982-990
-
-
Lin, L.1
Ercan, O.2
Raza, J.3
-
24
-
-
72049121659
-
Aromatase deficiency: Delayed puberty in a german girl is due to 2 new mutations of the cyp19 gen
-
San Francisco Abstract
-
Richter-Unruh A, Schmidt M, Verhoef-Post M. Aromatase deficiency: delayed puberty in a german girl is due to 2 new mutations of the cyp19 gen. 90th Annl Meet Endocrine Soc; San Francisco; 2008; Abstract P2-590.
-
(2008)
90th Annl Meet Endocrine Soc
, pp. P2-590
-
-
Richter-Unruh, A.1
Schmidt, M.2
Verhoef-Post, M.3
-
25
-
-
79958859632
-
Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the cyp19a1 gene
-
Hauri-Hohl A, Meyer-Boni M, Lang-Muritano M, et al. Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the cyp19a1 gene. Clin Endocrinol (Oxf) 2011;75:39-43.
-
(2011)
Clin Endocrinol (Oxf)
, vol.75
, pp. 39-43
-
-
Hauri-Hohl, A.1
Meyer-Boni, M.2
Lang-Muritano, M.3
-
26
-
-
84884560202
-
Aromatase deficiency: Rare cause of virilization
-
Ludwikowski B, Heger S, Datz N, et al. Aromatase deficiency: rare cause of virilization. Eur J Pediatr Surg 2013;23:418-22.
-
(2013)
Eur J Pediatr Surg
, vol.23
, pp. 418-422
-
-
Ludwikowski, B.1
Heger, S.2
Datz, N.3
-
28
-
-
84898861939
-
Characterization of a novel cyp19a1 (aromatase) r192h mutation causing virilization of a 46,xx newborn, undervirilization of the 46,xy brother, but no virilization of the mother during pregnancies
-
Bouchoucha N, Samara-Boustani D, Pandey AV, et al. Characterization of a novel cyp19a1 (aromatase) r192h mutation causing virilization of a 46,xx newborn, undervirilization of the 46,xy brother, but no virilization of the mother during pregnancies. Mol Cell Endocrinol 2014;390:8-17.
-
(2014)
Mol Cell Endocrinol
, vol.390
, pp. 8-17
-
-
Bouchoucha, N.1
Samara-Boustani, D.2
Pandey, A.V.3
-
29
-
-
84877294059
-
Aromatase deficiency: An unusual cause for primary amenorrhea with virilization
-
Sudeep K, Abraham J, Seshadri L, Seshadri MS. Aromatase deficiency: an unusual cause for primary amenorrhea with virilization. J Assoc Phys India 2013;61:340-3.
-
(2013)
J Assoc Phys India
, vol.61
, pp. 340-343
-
-
Sudeep, K.1
Abraham, J.2
Seshadri, L.3
Seshadri, M.S.4
-
30
-
-
0026763015
-
Ovarian cysts are common in premenarchal girls: A sonographic study of 101 children 2-12 years old
-
Cohen HL, Eisenberg P, Mandel F, Haller JO. Ovarian cysts are common in premenarchal girls: a sonographic study of 101 children 2-12 years old. AJR Am J Roentgenol 1992;159:89-91.
-
(1992)
AJR Am J Roentgenol
, vol.159
, pp. 89-91
-
-
Cohen, H.L.1
Eisenberg, P.2
Mandel, F.3
Haller, J.O.4
-
31
-
-
45549094156
-
Hypothalamic control of the pituitary-gonadal axis in higher primates: Key advances over the last two decades
-
Plant TM. Hypothalamic control of the pituitary-gonadal axis in higher primates: key advances over the last two decades. J Neuroendocrinol 2008;20:719-26.
-
(2008)
J Neuroendocrinol
, vol.20
, pp. 719-726
-
-
Plant, T.M.1
-
32
-
-
80655137157
-
Pharmacokinetics and pharmacodynamics of oral and transdermal 17beta estradiol in girls with turner syndrome
-
Taboada M, Santen R, Lima J, et al. Pharmacokinetics and pharmacodynamics of oral and transdermal 17beta estradiol in girls with turner syndrome. J Clin Endocrinol Metab 2011;96: 3502-10.
-
(2011)
J Clin Endocrinol Metab
, vol.96
, pp. 3502-3510
-
-
Taboada, M.1
Santen, R.2
Lima, J.3
|