Letter to the Editor
Partial 3β-hydroxysteroid dehydrogenase type 2 deficiency: Diagnosis of a novel mutation after positive newborn screening for 21-hydroxylase deficiency
Deficiencia parcial de 3β-hidroxiesteroide deshidrogenasa tipo 2: diagnóstico de una nueva mutación tras cribado neonatal positivo de deficiencia de 21-hidroxilasa
M. Pilar Bahíllo-Curiesesa,
, Lourdes Loidi Fernández de Trocónizb, Agustín del Cañizo Lópezc, María José Martínez-Sopenaa
Corresponding author
a Servicio de Pediatría, Endocrinología Pediátrica, Hospital Clínico Universitario de Valladolid, Valladolid, Spain
b Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, A Coruña, Spain
c Servicio de Cirugía Pediátrica, Hospital Clínico Universitario de Valladolid, Valladolid, Spain
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"documento" => "simple-article" "crossmark" => 1 "subdocumento" => "crp" "cita" => "Med Clin. 2016;146:86-91" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Diagnosis and treatment</span>" "titulo" => "Diagnosis of nodular thyroid disease: An update" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "86" "paginaFinal" => "91" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Actualización en el diagnóstico de la enfermedad nodular tiroidea" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 2324 "Ancho" => 3100 "Tamanyo" => 317994 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Algorithm suggested for the differential diagnosis of thyroid nodular disease considering the possible location of the novel diagnostic techniques (elastography, immunocytochemical markers and molecular markers). MTC: medullary thyroid carcinoma; PTC: papillary thyroid carcinoma; MEN: multiple endocrine neoplasm; FNA: fine-needle aspiration.</p> <p id="spar0010" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleSup">a</span> Classification system of the British Thyroid Association (<a class="elsevierStyleCrossRef" href="#tbl0010">Table 2</a>).<a class="elsevierStyleCrossRef" href="#bib0200"><span class="elsevierStyleSup">9</span></a></p> <p id="spar0015" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleSup">b</span> Microcalcifications, hypoechogenicity, irregular margins, absence of halo, solid content, intranodular vascularization and anteroposterior diameter<span class="elsevierStyleHsp" style=""></span>><span class="elsevierStyleHsp" style=""></span>transverse diameter.<a class="elsevierStyleCrossRef" href="#bib0215"><span class="elsevierStyleSup">12</span></a></p> <p id="spar0020" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleSup">c</span> C1-C6, Bethesda system (<a class="elsevierStyleCrossRef" href="#tbl0015">Table 3</a>).<a class="elsevierStyleCrossRefs" href="#bib0185"><span class="elsevierStyleSup">6,15,16</span></a></p> <p id="spar0025" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleSup">d</span> Mutation panel, gene expression classifier and miRNA expression.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Juan J. 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Pilar Bahíllo-Curieses, Lourdes Loidi Fernández de Trocóniz, Agustín del Cañizo López, María José Martínez-Sopena" "autores" => array:4 [ 0 => array:4 [ "nombre" => "M. Pilar" "apellidos" => "Bahíllo-Curieses" "email" => array:1 [ 0 => "pilarbahilloc@yahoo.es" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Lourdes" "apellidos" => "Loidi Fernández de Trocóniz" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "Agustín" "apellidos" => "del Cañizo López" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] 3 => array:3 [ "nombre" => "María José" "apellidos" => "Martínez-Sopena" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicio de Pediatría, Endocrinología Pediátrica, Hospital Clínico Universitario de Valladolid, Valladolid, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, A Coruña, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Servicio de Cirugía Pediátrica, Hospital Clínico Universitario de Valladolid, Valladolid, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Deficiencia parcial de 3<span class="elsevierStyleBold">β</span>-hidroxiesteroide deshidrogenasa tipo 2: diagnóstico de una nueva mutación tras cribado neonatal positivo de deficiencia de 21-hidroxilasa" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">The most common form of congenital adrenal hyperplasia (CAH) is the deficiency of 21-hydroxylase (21OH). Some countries and regions have implemented newborn screening programs for 21OH. It is known that other forms of CAH can be diagnosed through this screening due to the detection of high 17-OH progesterone levels (17OHP).<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">This case report is the first child of healthy nonconsanguineous parents. Full-term birth after a pregnancy without incident, normal somatometry, assigned sex: female. At 25 days of life a positive result of newborn screening for 21OH (17OHP 40<span class="elsevierStyleHsp" style=""></span>ng/ml) was obtained. Asymptomatic with proper height to weight ratio. Physical examination revealed a mild clitoral hypertrophy with urogenital sinus without other associated anomalies. She was diagnosed with disorders of sex development (DSD). She underwent additional examinations; blood tests were normal, including ionograms. Karyotype: 46 XY. Baseline hormonal studies: 17OHP 30.3<span class="elsevierStyleHsp" style=""></span>ng/ml (2.3–9.71), androstenedione 2.55<span class="elsevierStyleHsp" style=""></span>ng/ml (0.22–1.40), dehydroepiandrosterone sulfate (DHEAS) 133.10<span class="elsevierStyleHsp" style=""></span>μg/dl (9–130), progesterone 3.14<span class="elsevierStyleHsp" style=""></span>ng/ml (0.05–0.8), 11-deoxycortisol 20.4<span class="elsevierStyleHsp" style=""></span>ng/ml (5.39–31.19), total testosterone 0.34<span class="elsevierStyleHsp" style=""></span>ng/ml (0.29–3.26), dihydrotestosterone (DHT) 0.17<span class="elsevierStyleHsp" style=""></span>ng/ml (0.12–0.85), luteinizing hormone 1.7<span class="elsevierStyleHsp" style=""></span>mIU/ml (0.13–7.07), follitropin 2.2<span class="elsevierStyleHsp" style=""></span>mIU/ml (0.11–7.94), estradiol 5<span class="elsevierStyleHsp" style=""></span>pg/ml (0.1–1.9), cortisol 14.0<span class="elsevierStyleHsp" style=""></span>μg/dl (1.34–15.55), adrenocorticotropic hormone (ACTH) 84.5<span class="elsevierStyleHsp" style=""></span>pg/ml (16.5–101), aldosterone 1334<span class="elsevierStyleHsp" style=""></span>pg/ml (144–1136), plasma renin activity (PRA) 82.8<span class="elsevierStyleHsp" style=""></span>ng/ml/h (2.13–21.37), sex hormone-binding globulin 109<span class="elsevierStyleHsp" style=""></span>nmol/l (60–250), AMH 474<span class="elsevierStyleHsp" style=""></span>pmol/l (251–679). No figures of 17-OH pregnenolone or pregnenolone were obtained due to the lack of RIA and LC-MS techniques available for those steroids in Spain. At 2 months of life a short chorionic gonadotropin test showed: 0.08<span class="elsevierStyleHsp" style=""></span>ng/ml pre-test testosterone (0.05–4.15), post-test testosterone 0.42<span class="elsevierStyleHsp" style=""></span>ng/ml, pre-test DHT 0.17<span class="elsevierStyleHsp" style=""></span>ng/ml (0.12–0.85), post-test DHT 0.34<span class="elsevierStyleHsp" style=""></span>ng/ml (testosterone levels were increased, but lower than expected response, considered as lack of response). At 4 months of life ACTH test showed: baseline 17OHP 7.12<span class="elsevierStyleHsp" style=""></span>ng/ml (0.4–3.37), 11-deoxycortisol 16.30<span class="elsevierStyleHsp" style=""></span>ng/ml (5.39–31.19), androstenedione 1.37<span class="elsevierStyleHsp" style=""></span>ng/ml (0.01–0.75), DHEAS 80.6<span class="elsevierStyleHsp" style=""></span>μg/dl (5–42), total testosterone 0.17<span class="elsevierStyleHsp" style=""></span>ng/ml (0.05–4.15), ACTH 43<span class="elsevierStyleHsp" style=""></span>pg/ml (16.5–101.5), baseline cortisol 13.6<span class="elsevierStyleHsp" style=""></span>μg/dl (1.40–21.28); values at 60<span class="elsevierStyleHsp" style=""></span>min: 17OHP 13<span class="elsevierStyleHsp" style=""></span>ng/ml, 11-deoxycortisol 18.30<span class="elsevierStyleHsp" style=""></span>ng/ml, androstenedione 2.44<span class="elsevierStyleHsp" style=""></span>ng/ml, DHEAS 79.1<span class="elsevierStyleHsp" style=""></span>μg/dl, total testosterone 0.15<span class="elsevierStyleHsp" style=""></span>ng/ml, cortisol 32<span class="elsevierStyleHsp" style=""></span>μg/dl. Abdominal ultrasound revealed lack of uterus and ovaries and the presence of testicles in the inguinal region. A genitography showed a short urogenital sinus with a blind vagina (1.5<span class="elsevierStyleHsp" style=""></span>cm). Laparoscopy showed absence of Mullerian remains with normal Wolffian structures. Gonadal sample was taken for biopsy and its histopathological examination showed normal testicular tissue for his age. Deficiency of 21OH was discarded, despite the high figures of 17OHP, due to the phenotype of the patient, which corresponds to a 46 XY individual, instead of 46 XX, being the initial diagnosis secondary DSD in the biosynthesis of testosterone. The final diagnosis was confirmed by molecular study of HSD3B2 gene, which revealed heterozygosity for the <a id="intr0010" class="elsevierStyleInterRef" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=search&db=nucleotide&doptcmdl=genbank&term=NM_000198.2">NM_000198.2</a>: c.244G>A (p.Ala82Thr) mutation and the novel mutation <a id="intr0015" class="elsevierStyleInterRef" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=search&db=nucleotide&doptcmdl=genbank&term=NM_000198.2">NM_000198.2</a>: c.1016A>G (p.Tyr339Cys). Both parents were heterozygous carriers of a mutation, being asymptomatic and with normal analytical controls. At 9 months of life, our patient had not suffered salt-wasting episodes either in baseline situation or with infectious events. Levels of aldosterone and PRA were within normal levels and 17OHP persisted high.</p><p id="par0015" class="elsevierStylePara elsevierViewall">3β-Hydroxysteroid dehydrogenase type 2 (3βHSD2) deficiency is a rare inherited disorder that affects the adrenal and gonadal steroidogenesis and is due to mutations in the HSD3B2 gene.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> There are 2 types of 3βHSD isoenzymes (93.5% homology) encoded by 2 very similar genes located in 1p13.1.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a> Type 1 gene (HSD3B1) is expressed in the placenta and peripheral tissues (mammary gland, prostate, skin) and type 2 (HSD3B2) in the adrenal glands and gonads.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a> 3βHSD deficiency is classified into classical and non-classical forms, and more recently it has been described a late form in hirsute women.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a> As in other forms of CAH, phenotypic expression of 3βHSD deficiency is variable. Mutations causing a less severe loss of HSD3B2 activity are associated to proper aldosterone production and deficiencies in the synthesis of sex hormones, which, in males, causes insufficient production of testosterone and DHT, and causes a virilization defect with varying degrees of sexual ambiguity, as in our patient.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> The non-salt wasting form of 3βHSD deficiency found, comes from he mutation in c.244G>A (p.Ala82Thr) (A82T) in the paternal allele, and the new mutation c.1016A>G (p.Tyr339Cys) in the maternal allele. p.Ala82Thr mutation might cause a significant loss of enzyme activity. However, it does not reduce the 3βHSD2 activity of the adrenal glands to a sufficiently low level to reduce the flow through the gluco and mineralocorticoid pathway, thereby preventing saline loss.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a> p.Ala82Thr (A82T) was first described in Brazilian patients with non-salt wasting forms associated with DSD in men and premature pubarche or cryptic expression in women.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a> The other mutation present in our patient has not been previously described.</p><p id="par0020" class="elsevierStylePara elsevierViewall">Another important aspect of our case is the increasing 17OHP and other Δ4-steroids, unlike expected in 3βHSD deficiency, being explained by normal peripheral 3βHSD1 activity, with activity 5 times over type 2.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">Our findings confirm that patients with 3βHSD deficiency can be detected in newborn screening programs of 21OH deficiency, a fact already noted by other authors and which led some patients to be misdiagnosed with 21OH1 deficiency.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1,6</span></a></p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Bahíllo-Curieses MP, Loidi Fernández de Trocóniz L, del Cañizo López A, Martínez-Sopena MJ. Deficiencia parcial de 3β-hidroxiesteroide deshidrogenasa tipo 2: diagnóstico de una nueva mutación tras cribado neonatal positivo de deficiencia de 21-hidroxilasa. Med Clin (Barc). 2016;146:92–93.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0035" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A case of 3β-hydroxyesteroid dehydrogenase type II (HSD3B2) deficiency picked up by neonatal screening for 21-hydroxylade deficiency: difficulties and delay in etiologic diagnosis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "A. Nordenström" 1 => "M.G. Forest" 2 => "A. 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