17α-Hydroxylase Deficiency is an Underdiagnosed Disease: High Frequency of Misdiagnoses in a Large Cohort of Brazilian Patients

Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance

“… b Abdalla and Nabil (2012); Afonso Lopes, Benador, Wacker, Wyss, and Sizonenko (1995); Aver’ianov, Bogomazov, and Logunova (1977); Baguena Candela, Forteza Bover, and Amat Aguirre (1965); Baguena Candela, Forteza Bover, Ortiz Hernandez, and Comin Ferrer (1966); Bajnóczky and Méhes (1979); Banes, Begleiter, and Butler (2003); Barakat and Der Kaloustian (1973); Becerra-Solano et al (2008); Beck and Mikkelsen (1981); Blaise et al (2005); Brouns et al (2009); Chelly et al (1986); Chen, Tyrkus, and Woolley (1978); Chuansumrit et al (1999); Coğulu, Tirpan, Ozkinay, Gündüz, and Ozkinay (2002); Cohen and Davidson (1972); DeBrasi et al (1995); Digilio, Mingarelli, Giannotti, Melchionda, and Dallapiccola (1994); Dobkin, Radu, Ding, Brown, and Nolin (2009); Edgren, de la Chapelle, and Kääriäinen (1966); Eiben, Hansen, Goebel, and Hammans (1989); Feiertag-Koppen, Anders, Stronk, and Boevé (1966); Ferrier, Bamatter, and Klein (1965); Fontenele, Costa-Santos, and Kater (2018); Franceschini et al (1996); Freedenberg et al (1999); Gafter, Shabtal, Kahn, Halbrecht, and Djaldetti (1976); Gatrad (1981); Gengel and Marshall (2017); Genuardi et al (1999); Gilchrist, Hammond, and Melnyk (1965); Gilgenkrantz, Briquel, Mandel, and Oberle (1986); Grosse, Hopfengärtner, and Schwanitz (1971); Guenego, Morel, Ionesco, Mallet, and Priou-Guesdon (2015); Gutmann, Brooks, Emanuel, McDonald-McGinn, and Zackai (1991); Harada et al (1998); Hatipoglu, Kurtoglu, Kendirci, Keskin, and Per (2010); Hoppman-Chaney, Jang, Jen, Babovic-Vuksanovic, and Hodge (2012); Hunter (2017); Hustinx, Haar, Scheres, and Rutten (1974); Igarashi, Tsukahara, Sugio, Katayama, and Kajii (1985); Ikonen et al (1989); Jansen, Kruger, and Liebenberg (1991); Jaruratanasirikul and Jinorose (1995); Kaczorowska et al (2016); Kan, Fujita, Sato, Okajima, and Fukui (1976); Klosovskiĭ, lankova, Fateeva, and Damanskaia (1968); Knudtzon, Ledaal, Middelthon-Moe, and Aarskog (1988); Ko, Lee, Hong, and Hwang (2010); Koçak-Midillioglu, Karadeniz, Yalvaoç, Koçak-Altintas, and Duman (2003); Krutilkova et al (2005); Kumar, Lal, Chapadgaonkar...…”

A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters

“…CAH are monogenetic diseases inherited in autosomal recessive fashion, with significant morbidity and mortality due to metabolic disorders, as a consequence of the imbalance of glucocorticoids and mineralocorticoids [1]. The diagnosis and treatment of CAH is challenging because of the rarity and variability of its clinical manifestations, depending on the type and severity of the enzyme deficiency [2]. Around 95% of CAH cases are caused by 21-hydroxylase deficiency, and the resting 5-8% are mainly due to 11b-hydroxylase deficiency [3].…”

“…The 17a-hydroxylase enzyme, which is expressed in gonads and adrenals, acts at two levels: (i) it catalyzes the 17a-hydroxylation of pregnenolone and progesterone, and (ii) its lyase activity cleaves their products at 17,20 side chain [2,3]. 17a-Hydroxylase, also known as P450c17, is a 508 amino acids protein, encoded by the CYP17A1 gene, which is located on chromosome 10 (10q24.32-q25) and is composed of eight exons [3].…”

“…17a-Hydroxylase, also known as P450c17, is a 508 amino acids protein, encoded by the CYP17A1 gene, which is located on chromosome 10 (10q24.32-q25) and is composed of eight exons [3]. Approximately, 120 different mutations of CYP17A1 have been reported [2,3,5]. These mutations impair the enzyme activity partially or completely, resulting in adrenal and gonadal sex steroid deficiency [3,4].…”

“…17OHD causes cortisol synthesis blockage; that leads to adrenocorticotropic hormone (ACTH) accumulation and further activation of the 17-deoxy pathway of the zona fasciculata producing overstimulation of this pathway and increasing progesterone, corticosterone and deoxycorticosterone (DOC) synthesis [3]. Importantly, the excessive mineralocorticoid activity reduces renin activity and decreases aldosterone levels [2].…”