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Genotype±Phenotype Associations in Non-Classical Steroid 21-Hydroxylase Deficiency

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Genotype±Phenotype Associations in Non-Classical Steroid 21-Hydroxylase Deficiency European Journal of Endocrinology (2000) 143 397±403 ISSN 0804-4643 CLINICAL STUDY Genotype±phenotype associations in non-classical steroid 21-hydroxylase de®ciency Naomi Weintrob, Chaim Brautbar1, Athalia Pertzelan, Zeev Josefsberg, Zvi Dickerman, Arieh Kauschansky, Pearl Lilos, Dalia Peled, Moshe Phillip and Shoshana Israel1 Institute for Endocrinology and Diabetes, Schneider Children's Medical Center of Israel, Petah Tiqva and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel and 1Tissue Typing Unit, Hadassah Medical Organization, Jerusalem, Israel (Correspondence should be addressed to N Weintrob, Institute for Endocrinology and Diabetes, Schneider Children's Medical Center of Israel, 14 Kaplan Street, Petah Tiqva 49202, Israel; Fax: +972-3-9253836) Abstract Objective: To evaluate whether genotype differences can explain the clinical variability of non-classical steroid 21-hydroxylase de®ciency (NC21-OHD) and to determine if genotype is related to ethnic origin. Design: Genotyping for mutations in the steroid 21-hydroxylase (CYP21) gene was performed in 45 unrelated Israeli Jewish patients (nine males) with NC21-OHD (60 min 17-hydroxyprogesterone (17- OHP), 45±386 nmol/l) who were referred for evaluation of postnatal virilization or true precocious/ early puberty. Eleven siblings diagnosed through family screening were genotyped as well. Methods: Patients were divided by genotype into three groups: (A) homozygous or compound heterozygous for the mild mutations (V281L or P30L) (n=29; eight males); (B) compound hetero- zygous for one mild and one severe mutation (Q318X, I2 splice, I172N) (n=12; no males); (C) mild mutation detected on one allele only (n=4; one male; peak 17-OHP 58±151 nmol/l). We then related the genotype to the ethnic origin, clinical phenotype and hormone level. Since group C was very small, comparisons were made between groups A and B only. Results: At diagnosis, group B tended to be younger (5.863.0 vs 8.164.3 years, P 0.09), had greater height SDS adjusted for mid-parental height SDS (1.661.1 vs 0.761.4, P 0.034), tended to have more advanced bone age SDS (2.961.5 vs 1.762.1, P 0.10) and had a higher peak 17-OHP level in response to ACTH stimulation (226692 vs 126662 nmol/l, P < 0.01). Group B also had pubarche and gonadarche at an earlier age (5.162.4 vs 7.462.2 years, P < 0.01 and 7.461.8 vs 9.961.4 years, P < 0.001, respectively) and a higher rate of precocious puberty (50 vs 17%, P 0.04). Stepwise logistic regression analysis (excluding males) yielded age at gonadarche as the most signi®cant variable differentiating the two groups, with a positive predictive value of 86% for a cut-off of 7.5 years. Conclusions: The ®ndings suggest that genotype might explain some of the variability in the phenotypic expression of NC21-OHD. Compound heterozygotes for one mild and one severe mutation have a higher peak 17-OHP associated with pubarche and gonadarche at an earlier age and more frequent precocious puberty. Hence, the severity of the enzymatic defect might determine the timing and pattern of puberty. European Journal of Endocrinology 143 397±403 Introduction and (C) non-classical (NC21-OHD), which is associated with different degrees of postnatal virilization develop- Congenital adrenal hyperplasia (CAH) denotes a family ing during childhood or at puberty and may be of disorders due to a defect in cortisol biosynthesis. asymptomatic (1). De®cient 21-hydroxylase (CYP21) activity, required The disorder is inherited as a monogenic autosomal to convert 17-hydroxyprogesterone (17-OHP) to 11- recessive trait. The CYP21 gene and a highly homo- deoxycortisol, is the most common cause of CAH and logous inactive pseudo-gene, CYP21P, are located on one of the most common genetic inborn errors of the short arm of chromosome 6 within the HLA class III metabolism. The disorder has traditionally been divided region. CYP21 gene deletion and at least ten sequence into three types according to severity of expression. (A) aberrations, probably transferred from CYP21P by gene Salt-wasting (SW) and (B) simple virilizing (SV); the conversion, have been identi®ed as causing the different more severe SW and SV forms are collectively referred to forms of 21-OHD (2). The functional consequences of as classical steroid 21-hydroxylase de®ciency (21-OHD), individual mutations have been studied, and the q 2000 Society of the European Journal of Endocrinology Online version via http://www.eje.org Downloaded from Bioscientifica.com at 10/01/2021 08:31:10AM via free access 398 N Weintrob and others EUROPEAN JOURNAL OF ENDOCRINOLOGY (2000) 143 mutations have been classi®ed according to the degree 0.1 to 17.5 years (median, 7.25). Ethnic origin and of the resultant enzymatic inactivation, so that the clinical signs at presentation are shown in Table 1. For genotype can usually predict the clinical phenotype the second part of the study, the genotype and clinical (3, 4). Previous studies have correlated the genotype characteristics of 11 affected siblings (six males) with the three main forms of the disease, although data detected by family screening were compared with the on the correlation of the genotype with the various index case. The study protocol was approved by the clinical presentations of the non-classical form are Ethics Committee of Rabin Medical Center. We obtained lacking. informed consent from the patients and also from the The prevalence of NC21-OHD among Ashkenazi Jews parents of the children who were less than 18 years old. is remarkably high (3.2±3.7%) (5); about 80% carry Height of the patients and parents was measured with the mild mutation V281L (6). Screening for CYP21 the Harpenden±Holtain stadiometer. Auxological gene mutations in NC21-OHD in other Jewish ethnic results were expressed in terms of standard deviation groups has not been done. scores (SDS) for age, based on the standards of Tanner & In this study we screened for CYP21 gene mutations Whitehouse (8). Bone age (BA) was determined in Jewish patients with NC21-OHD to evaluate whether according to Greulich & Pyle (9). Height was accepted genotype differences might explain the clinical varia- as the ®nal height when the increment was < 1 cm over bility of this disorder and to determine whether there is 1 year or when BA was $15 years in girls and $17 an association between genotype and ethnic origin. years in boys. Clitoris and penile size was measured by sliding caliper. Clitoromegaly and macrogenitosomia were considered when measurements were > 2 S.D. for Subjects and methods age and Tanner stage (10, 11). We transformed the The genetic study was carried out between 1995 and measurements of clitoral size made from 1980 to 1992 1998 in patients who had been followed in our institute to the clitoral index published in 1992 (10). since the late 1970s. Puberty was assessed according to Marshall & Tanner The study population included 45 unrelated Jewish (12, 13). Pubarche was de®ned as Tanner 2 for pubic patients (nine males) with NC21-OHD who were hair (12, 13). The criterion of true puberty was referred for evaluation of postnatal virilization or true gonadarche: breast buds in girls and a testicular precocious/early puberty. The clinical diagnosis of volume reaching 4 ml in boys. True precocious puberty NC21-OHD was based upon presenting signs of post- was diagnosed when gonadarche appeared before the natal hyperandrogenism and the characteristic 60-min age of 8 years in girls and 9 years in boys. When response of 17-OHP to 0.25 mg adrenocorticotropin gonadarche was present, a gonadotropin-releasing (ACTH) stimulation (45±386 nmol/l) (7) with normal hormone (GnRH) stimulation test was performed levels of 11-deoxycortisol. Age at diagnosis ranged from concomitantly with the ACTH test. Plasma 17-OHP and cortisol levels were measured in the morning after an overnight fast before and 60 min after an i.v. bolus of a ®xed dose of 0.25 mg ACTH Table 1 Demographic and clinical characteristics of 45 Jewish patients with NC21-OHD. (7) (Synacthen, Ciba-Geigy, Basel, Switzerland). Levels of plasma luteinizing hormone (LH) and follicle- Patients stimulating hormone (FSH) were measured before and (n 45) 30 and 60 min after an i.v. bolus of 50 mg/m2 GnRH No. (%) (Relisorm; Serono, Aubonne, Switzerland). Pubertal LH $ Ethnicity* response was de®ned as 5 IU/l (14). Also determined Ashkenazi 24 (53) were basal levels of androstenedione, testosterone, 11- Sephardic 8 (18) deoxycortisol and estradiol. Measurements were per- Asian 1 (2) formed by radioimmunoassay (RIA) with commercial Combined 12 (27) kits (17-OHP, cortisol, testosterone, estradiol: DPC, Los Presenting sign² Precocious pubarche 20 (44) Angeles, CA, USA; androstenedione: Buhlman, Basel, True precocious puberty at diagnosis 12 (27) Switzerland; 11 deoxycortisol: Sigma, St Louis, MO, Clitoromegaly/macrogenitosomia 19 (42)³ USA; LH and FSH: chemiluminescent enzyme immu- PCO-like syndrome 3 (7) noassay; DPC). The plasma was separated and stored at Growth acceleration 3 (7) 8 Short ®nal height + S/P fast puberty 1 (2) 20 C until assayed. It is noteworthy that we have Hypertrichosis 1 (2) been using the DPC RIA for determination of 17-OHP and androgen levels since the mid-1980s. Before that, * By country of origin: Ashkenazi ± Eastern Europe and homemade kits were used and ®ndings were evaluated former USSR; Sephardic ± North Africa, Spain and the against norms established in our laboratory for each Balkans; Asian ± Yemen, Iraq and Iran. ² Most patients had more than one presenting sign. Tanner stage. Measurements done from the mid-1980s ³ 13/36 females (36%) and 6/9 males (66%). were compared with the norms evaluated by Lashansky PCO, polycystic ovary; S/P, status post.
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