Newly Proposed Hormonal Criteria via Genotypic Proof for Type II 3β-Hydroxysteroid Dehydrogenase Deficiency

Lutfallah, Chantal; Wang, Weihua; Mason, J. Ian; Chang, Ying; Haider, Anzar; Rich, Barry H.; Castro‐Magana, Mariano; Copeland, Kenneth C.; David, Raphael; Pang, Songya

doi:10.1210/jcem.87.6.8615

Cited by 59 publications

(50 citation statements)

References 34 publications

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“…88 The genetics of HSD3B2 deficiency was first ascertained in a 46,XY patient with ambiguous genitalia and a homozygous combined missense/frameshift mutation in exon 4. 89…”

Section: Author Manuscript Author Manuscriptmentioning

confidence: 99%

“…87 Thus, the diagnosis of a mild or "nonclassic" form is questionable and should not be considered unless the diagnostic laboratory parameters are at least six standard deviations above normal. 88 The genetics of HSD3B2 deficiency was first ascertained in a 46,XY patient with ambiguous genitalia and a homozygous combined missense/frameshift mutation in exon 4. 89 …”

Section: β-Hydroxysteroid Dehydrogenase Type 2 Deficiencymentioning

confidence: 99%

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Genetics of Congenital Adrenal Hyperplasia

Hannah‐Shmouni

Chen²,

Merke

2017

Endocrinology and Metabolism Clinics of North America

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“…88 The genetics of HSD3B2 deficiency was first ascertained in a 46,XY patient with ambiguous genitalia and a homozygous combined missense/frameshift mutation in exon 4. 89…”

Section: Author Manuscript Author Manuscriptmentioning

confidence: 99%

Section: β-Hydroxysteroid Dehydrogenase Type 2 Deficiencymentioning

confidence: 99%

Genetics of Congenital Adrenal Hyperplasia

Hannah‐Shmouni

Chen²,

Merke

2017

Endocrinology and Metabolism Clinics of North America

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“…In human beings there are two 3 β HSDs: type 1 3 β HSD is found in liver, skin, placenta and other peripheral tissues, and type 2 3 β HSD (3 β HSD2) is expressed in adrenal and gonads (Lorence et al ., 1990;Rheaume et al ., 1991;Labrie et al ., 1992). Mutations in 3 βHSD2 cause a rare form of congenital adrenal hyperplasia (Rheaume et al, 1994;Simard et al, 2002), and these patients have elevated circulating concentrations of ∆ 5 -steroids, particularly 17α-hydroxypregnenlone (Lutfallah et al, 2002). However, 3βHSD2 is normal in most women with idiopathic hirsutism and premature adrenarche (Zerah et al, 1994;Sakkal-Alkaddour et al, 1996).…”

Section: β Hsds (β -Hydroxysteroid Dehydrogenase/ ∆ 5/4 -Isomerases)mentioning

confidence: 99%

Adrenarche – physiology, biochemistry and human disease

Auchus¹,

Rainey

2003

Clinical Endocrinology

258

148

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SummaryAdrenarche refers to the onset of dehydroepiandrosterone (DHEA) and DHEA-sulphate (DHEA-S) production from the adrenal zona reticularis that can be detected at around 6 years of age. The phenotypic result of adrenarche is pubarche or the development of axillary and pubic hair that occurs in both girls and boys at about age 8. The phenomenon of adrenarche is unique to human beings and to some Old World primates, and a reversal of adrenarche appears to occur in the ageing process. Premature and exaggerated adrenarche can be indicative of future onset of adult diseases, thus increasing the clinical relevance of adrenarche. The physiological triggers of adrenarche and the role(s) of DHEA-S remain speculative. However, the biochemical pathways that define adrenarche have been characterized in detail, and the appearance of key enzymes and cofactors in the adrenal zona reticularis track with the progression of adrenarche. This article reviews the clinical manifestations of adrenarche, the biochemistry of the enzymes involved in DHEA-S production, and the cell biology of the adrenal zona reticularis.Glucocorticoids and mineralocorticoids secreted by the adrenal glands are essential for the maintenance of vascular tone and carbohydrate metabolism or of blood volume and sodium balance, respectively. The testes and ovaries, by contrast, generate the sex steroids that are required for gametogenesis, secondary sexual characteristics and reproduction. However, the adrenal glands of adult human beings secrete generous quantities of the C 19 steroids dehydroepiandrosterone (DHEA) and DHEA-sulphate

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“…A clear diagnosis of nonclassic congenital adrenal hyperplasia requires a steroid intermediate peak that is more than five standard deviations above average (eg, 17-hydroxyprogesterone over 1000 to 1500 ng/dL for 21-hydroxylase deficiency or 17-hydroxypregnenolone over 5000 ng/dL for 3β-hydroxysteroid dehydrogenase deficiency) [80,107,108]. Mildly elevated or normal responses to cosyntropin are consistent with FAH or idiopathic hyperandrogenism, respectively.…”

Section: Determining the Source Of Androgen Excessmentioning

confidence: 99%

Polycystic Ovary Syndrome in Adolescence

Driscoll

2003

Semin Reprod Med

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Polycystic ovary syndrome (PCOS) is a syndrome of variable combinations of menstrual irregularity, hirsutism or acne, and obesity. It can be diagnosed in adolescence and has early childhood antecedents. PCOS is the single most common endocrine cause of anovulatory infertility and a major risk factor for the metabolic syndrome and, in turn, development of type 2 diabetes mellitus (T2DM) in women. Thus, it appears that PCOS increases a woman's risk of developing cardiovascular disease. Therefore, identifying girls at risk for PCOS and implementing treatment early in the development of PCOS may be an effective means of preventing some of the long-term complications associated with this syndrome. This article reviews the definition, clinical features, diagnosis, and treatment of PCOS. Definition Classic polycystic ovary syndromeThe classic syndrome originally was described in 1935 by Stein and Leventhal as the association of amenorrhea with polycystic ovaries in women, of whom about two thirds were hirsute, and one half were obese [1]. The term PCOS was introduced upon recognition of a broader spectrum of clinical symptoms and ovarian histology, including stromal hyperplasia with multiple subcapsular follicles. Approximately two-thirds of patients with classic PCOS have hirsutism (or hirsutism equivalents, acne vulgaris or pattern alopecia), two-thirds have anovulatory symptoms (manifested as amenorrhea, oligomenorrhea, dysfunctional uterine bleeding, or unexplained infertility), and one-half are obese. Thus, only about one-third of classic cases have the full-blown clinical picture (Fig. 1). The laboratory diagnostic criteria for classic PCOS require biochemical evidence of hyperandrogenism with either a polycystic ovary by ultrasound or an increased serum level of luteinizing hormone (LH) or LH to follicle-stimulating hormone (FSH) ratio. These criteria have proven to not necessarily coincide (Fig. 2). Nonclassic and atypical polycystic ovary syndromeIn 1990, the National Institutes of Health (NIH) Conference on PCOS considered the implications of recent research findings for the diagnosis [2]. Fifty percent to 60% of those present concurred that the criteria for PCOS should consist of chronic anovulation with clinical or biochemical signs of hyperandrogenism that was not explained by other etiologies. This recognized the spectrum of the syndrome to include androgen excess in the absence of ultrasonographic and gonadotropic abnormalities (here termed nonclassic PCOS). NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author ManuscriptThe androgen excess of PCOS usually results from characteristic types of functional ovarian hyperandrogenism (FOH) or functional adrenal hyper-androgenism (FAH) [3,4]. FOH is gonadotropin-dependent excessive ovarian androgen production, and it occurs in most women with classic PCOS. It is also found in an equal number of hyperandrogenic women who do not meet the criteria for classic PCOS. It is characterized by 17-hydroxyprogesterone hyper-responsiveness to gonadotropin...

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Newly Proposed Hormonal Criteria via Genotypic Proof for Type II 3β-Hydroxysteroid Dehydrogenase Deficiency

Cited by 59 publications

References 34 publications

Genetics of Congenital Adrenal Hyperplasia

Genetics of Congenital Adrenal Hyperplasia

Adrenarche – physiology, biochemistry and human disease

Polycystic Ovary Syndrome in Adolescence

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