Aromatase deficiency

A rare autosomal recessive disorder in which individuals cannot synthesize endogenous ESTROGENS. In utero, this results in VIRILIZATION of both the fetus and mother, since the PLACENTA converts the precursor, DEHYDROEPIANDROSTERONE SULFATE, to TESTOSTERONE. Affected mothers exhibit HISUTISM and ACNE, which resolve following delivery. Affected female infants exhibit PSEUDOHERMAPHRODITISM at birth followed by cystic ovaries, delays in sexual development, and hirsutism at adolescence. Males may be asymptomatic at birth but can later exhibit tall stature, bone growth abnormalities and OBESITY, infertility and gynecomastia. Mutations in the CYP19A1 gene have been identified. OMIM: 613546

Also Known As:

Networked: 73 relevant articles (0 outcomes, 3 trials/studies)

Bio-Agent Context: Research Results

Experts

1.	Onay, Hüseyin: 4 articles (03/2021 - 11/2018)
2.	Carani, Cesare: 4 articles (10/2009 - 01/2004)
3.	Rochira, Vincenzo: 4 articles (10/2009 - 01/2004)
4.	Guercio, Gabriela: 3 articles (01/2014 - 11/2003)
5.	Horikawa, Reiko: 3 articles (05/2009 - 01/2004)
6.	Aranda, Claudio: 3 articles (06/2007 - 01/2004)
7.	Darcan, Şükran: 2 articles (03/2021 - 01/2020)
8.	Gökşen, Damla: 2 articles (03/2021 - 01/2020)
9.	Özen, Samim: 2 articles (03/2021 - 01/2020)
10.	Özkınay, Ferda: 2 articles (03/2021 - 01/2020)

Related Diseases

1.	Osteoporosis 10/01/2009 - "At presentation, all men with aromatase deficiency have tall stature, delayed bone maturation, osteopenia or osteoporosis and eunuchoid skeletal proportions. " 05/20/2002 - "Recent reports of osteoporosis in congenital estrogen deficiency in humans from estrogen resistance or aromatase deficiency have called attention to the importance of estrogen in males. " 12/01/1998 - "The physiological effects of oestrogens on bone in men were largely unanticipated until recently, when oestrogen deficiency in males with aromatase deficiency and oestrogen resistance was found to cause osteoporosis and delayed fusion of epiphyses despite sufficient serum testosterone. " 12/01/1998 - "The importance of oestrogen on bone mineral density (BMD) in males was suggested by reports of patients with oestrogen resistance and aromatase deficiency who demonstrated osteoporosis and epiphyseal plate maturation defect despite high testosterone levels. " 01/01/2000 - "Based on literature studies and cases of men with impaired hormone metabolism (estrogen resistency and aromatase deficiency), attention is paid to the role of estrogens in the patophysiology of osteopenia and osteoporosis."
2.	Rare Diseases (Rare Disease) 07/01/2023 - "Despite aromatase deficiency being a rare disease, the study of the effects of oestrogen on male bone development provides important insights for endocrine bone regulation. " 01/01/2020 - "Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease. " 02/01/2005 - "Placental aromatase deficiency is a rare disease characterized by a masculinized female fetus and a virilized mother, which should be considered in the absence of fetal adrenal hyperplasia and maternal androgen-secreting tumours. "
3.	Hypogonadism (Hypergonadotropic Hypogonadism) 06/01/2005 - "Sexual behavior was investigated by a sexological interview in a man with aromatase deficiency and hypogonadism. " 06/01/2007 - "This study evaluates the effects of different regimens of treatment with sex steroids over 7.3 years follow-up on BMD in an adult man affected by aromatase deficiency and by a concomitant mild hypogonadism, as previously described. " 06/01/1997 - "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."
4.	Metabolic Bone Diseases (Osteopenia) 10/01/2009 - "At presentation, all men with aromatase deficiency have tall stature, delayed bone maturation, osteopenia or osteoporosis and eunuchoid skeletal proportions. " 01/01/2000 - "Based on literature studies and cases of men with impaired hormone metabolism (estrogen resistency and aromatase deficiency), attention is paid to the role of estrogens in the patophysiology of osteopenia and osteoporosis."
5.	Virilism (Virilization) 01/01/2016 - "Maternal virilization should prompt consideration of aromatase deficiency, preventing unnecessary interventions in pregnancy. " 01/01/2016 - "Aromatase deficiency: a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization." 10/01/2013 - "Aromatase deficiency: rare cause of virilization." 05/01/2013 - "Variability in the degree of aromatase deficiency is known such that maternal virilization may not occur in pregnancy. " 08/30/2004 - "The mother showed signs of virilization by the 23rd week of gestation and aromatase deficiency was suspected. "

Related Drugs and Biologics

1.	Estrogens (Estrogen)
2.	Steroids
3.	Hormones (Hormone)
4.	Aromatase (CYP19)
5.	Androgens
6.	Follicle Stimulating Hormone (Follitropin)
7.	Testosterone (Sustanon)
8.	Oxidoreductases (Dehydrogenase)
9.	Lipids
10.	Mixed Function Oxygenases (Monooxygenases)

Related Therapies and Procedures

1.	Estrogen Replacement Therapy