Summary: The permanent lack of SEXUAL DEVELOPMENT in an individual. This defect is usually observed at an age after expected PUBERTY.
Philip J, Anjali -, Thomas N, Rajaratnam S, Seshadri M. 17-Alpha hydroxylase deficiency: an unusual cause of secondary amenorrhoea. Aust N Z J Obstet Gynaecol. 2004;44:477-8 pubmed
Tao H, Lu Z, Zhang B, Mi S, Wang N, Wang X, et al
. Study on the genetic mutations of 17 alpha-hydroxylase/17,20-lyase deficiency in Chinese patients. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006;23:125-8 pubmed
..That suggests this kind of mutation may have racial specificity. More study should be done to have better understanding of the function of the truncated P450C17 enzymes. ..
Yang J, Cui B, Sun S, Shi T, Zheng S, Bi Y, et al
. Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene. J Clin Endocrinol Metab. 2006;91:3619-25 pubmed
..deficiency (17OHD), caused by mutation in CYP17A1 gene, is characterized by severe hypertension-hypokalemia, sexual infantilism in females, and pseudohermaphroditism in males...
Benetti Pinto C, Vale D, Garmes H, Bedone A. 17-Hydroxyprogesterone deficiency as a cause of sexual infantilism and arterial hypertension: laboratory and molecular diagnosis--a case report. Gynecol Endocrinol. 2007;23:94-8 pubmed
..caused by this deficiency is characterized by suppressed production of sex hormones and consequently sexual infantilism. Although rare (1% of all forms of CAH), there appears to be a higher incidence of this syndrome in some ..
Batsukh T, Pieper L, Koszucka A, von Velsen N, Hoyer Fender S, Elbracht M, et al
. CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. Hum Mol Genet. 2010;19:2858-66 pubmed publisher
..Disruption of the direct CHD7-CHD8 interaction might change the conformation of a putative large CHD7-CHD8 complex and could be a disease mechanism in CHARGE syndrome. ..
Basciani S, Watanabe M, Mariani S, Passeri M, Persichetti A, Fiore D, et al
. Hypogonadism in a patient with two novel mutations of the luteinizing hormone ?-subunit gene expressed in a compound heterozygous form. J Clin Endocrinol Metab. 2012;97:3031-8 pubmed publisher
..These mutations should be considered in girls and boys with selective deficiency of LH. ..
Sathya A, Ganesan R, Kumar A. Congenital adrenal hyperplasia masquerading as periodic paralysis in an adolescent girl. Singapore Med J. 2012;53:e148-9 pubmed
..A high index of suspicion is necessary when evaluating children with hypertension, hypokalaemia, metabolic alkalosis or sexual infantilism.
Santra G, Banerjee S. Adult cystic fibrosis--a rare diagnosis from India. J Assoc Physicians India. 2012;60:45-7 pubmed
..She had poor nutrional status, short stature and sexual infantilism. She had premature cataract...
Miller W. Disorders of androgen synthesis--from cholesterol to dehydroepiandrosterone. Med Princ Pract. 2005;14 Suppl 1:58-68 pubmed
..17alpha-Hydroxylase deficiency, manifesting as female sexual infantilism and hypertension, is rare except in Brazil...