Early Diagnosis of 5α-Reductase Deficiency in Newborns

Bertelloni, Silvano; Scaramuzzo, Rosa Teresa; Parrini, D; Baldinotti, Fulvia; Tumini, Stefano; Ghirri, Paolo

doi:10.1159/000102103

Cited by 43 publications

(45 citation statements)

References 51 publications

(39 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…An exaggerated T/DHT ratio has high positive predictive value and appears to be particularly useful in early infants (21 ). Yet, equivocal or false-negative results are also not uncommonly reported (2,26 ).…”

Section: Discussionmentioning

confidence: 99%

Diagnosis of 5α-Reductase 2 Deficiency: Is Measurement of Dihydrotestosterone Essential?

Chan¹,

But²,

Lee³

et al. 2013

Clinical Chemistry

View full text Add to dashboard Cite

BACKGROUND 5α-Reductase 2 deficiency (5ARD) is a known cause of 46,XY disorders of sex development (DSD). Traditionally, the diagnosis relies on dihydrotestosterone (DHT) measurement, but the results are often equivocal, potentially leading to misdiagnosis. We reviewed alternative approaches for diagnosis of 5ARD. METHODS We conducted a retrospective review of the results of urinary steroid profiling (USP) by GC-MS and mutational analysis of SRD5A2 [steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)] by PCR and direct DNA sequencing of all 46,XY DSD patients referred to our laboratory with biochemical and/or genetic findings compatible with 5ARD. We also performed a literature review on the laboratory findings of all 5ARD cases reported in the past 10 years. RESULTS Of 16 patients diagnosed with 5ARD between January 2003 and July 2012, 15 underwent USP, and all showed characteristically low 5α- to 5β-reduced steroid metabolite ratios. Four patients had DHT measured, but 2 did not reach the diagnostic cutoff. In all 12 patients who underwent genetic analysis, 2 mutations of the SRD5A2 gene were detected to confirm the diagnosis. Twenty-four publications involving 149 patients with 5ARD were published in the review period. Fewer than half of these patients had DHT tested. Nearly 95% of them had the diagnosis confirmed genetically. CONCLUSIONS 5ARD can be confidently diagnosed by USP at 3 months postnatally and confirmed by mutational analysis of SRD5A2. Interpretation of DHT results may be problematic and is not essential in the diagnosis of 5ARD. We propose new diagnostic algorithms for 46,XY DSD.

show abstract

Section: Discussionmentioning

confidence: 99%

Diagnosis of 5α-Reductase 2 Deficiency: Is Measurement of Dihydrotestosterone Essential?

Chan¹,

But²,

Lee³

et al. 2013

Clinical Chemistry

View full text Add to dashboard Cite

show abstract

“…5 The current case describes the late diagnosis of 5-α-reductase type 2 deficiency in an 18-year-old female patient presenting with primary amenorrhoea and characteristics of virilisation.…”

Section: Discussionmentioning

confidence: 98%

Late Diagnosis of 5-α-Reductase Type 2 Deficiency in an Adolescent Girl with Primary Amenorrhoea: Case report

Hummadi

Yahya

Al-Qahtani

2017

SQUMJ

View full text Add to dashboard Cite

Deficiency of the 5-α-reductase enzyme has been found to affect male sexual development. We report an 18-year-old patient who was referred to an endocrinology clinic in Jizan, Saudi Arabia, in April 2014 with primary amenorrhoea, virilisation and a lack of secondary sex characteristics. As female external genitalia were present at birth, she had been raised as a female. Magnetic resonance imaging revealed no uterine or ovarian tissue in the pelvis and the presence of a scrotal sac. She was diagnosed with 5-α-reductase type 2 deficiency, a 46,XY disorder of sexual development. Typically, affected males have pseudovaginal perineoscrotal hypospadias and ambiguous genitalia at birth. Individuals who have been raised as female manifest characteristics of virilisation at puberty, including deepening of the vocal tone, phallus enlargement, scrotal hyperpigmentation and increased muscle mass.

show abstract

“…Inicialmente denominada hipospadia perineoescrotal pseudovaginal, a deficiência de 5-alfa redutase é uma doença genética autossômica recessiva. O gene codificador desta enzima, o SRD5A2, localizase no braço curto do cromossomo 2 na região 23 27 . O heredograma da Figura 1C, da paciente com deficiência de 5-alfa redutase, demonstra presença de consangüi-nidade entre os pais, achado este que se relaciona com a etiologia da doença.…”

Section: Discussionunclassified

“…Embora tanto homens quanto mulheres possam ser homozigotos para mutações nesse gene, a expressão clínica da doença é limitada ao sexo masculino. Contudo, a variabilidade fenotípica observada nesses indivíduos é tão grande que eles podem apresentar desde um fenótipo quase masculino normal com criptorquidia até uma genitália quase feminina com presença de gônadas palpáveis 12,27,28 , como foi o caso de nosso paciente. Quando não orquiectomizadas, as pacientes podem apresentar sinais de virilização durante a puberdade 12 .…”

Section: Discussionunclassified

Amenorréia primária e cariótipo XY: identificando pacientes em risco

Rosa¹,

Dibi²,

Toscani³

et al. 2008

Rev. Bras. Ginecol. Obstet.

View full text Add to dashboard Cite

GioRGio adRiano Paskulin 6 Artigos originaisResumo OBJETIVO: verificar a prevalência e as características clínicas de pacientes com amenorréia primária e cariótipo XY avaliadas em nosso Serviço com o intuito de identificar achados que possam auxiliar em seu reconhecimento. MÉTODOS: no período de Janeiro de 1975 a Novembro de 2007, foram avaliadas 104 pacientes com amenorréia primária. Para todos os casos foi realizada a análise pelo cariótipo por bandas GTG. Destas, 21 (20,2%) apresentavam uma constituição 46,XY. Contudo, duas foram excluídas do estudo por terem prontuários incompletos. Das 19 pacientes que compuseram a amostra, a maior parte veio encaminhada pela ginecologia (63,2%). Suas idades variaram entre 16 e 41 anos (média de 22,1 anos). Realizou-se uma coleta de dados sobre sua história familiar e pregressa, exame físico e resultados de exames complementares. Para determinação dos seus diagnósticos levaram-se em consideração essas informações. RESULTADOS: a síndrome de resistência aos androgênios foi o diagnóstico predominante (n=12; 63,2%). Cinco pacientes (26,3%) apresentavam disgenesia gonadal pura XY (DGP XY), uma (5,3%) deficiência de 17-alfa hidroxilase e uma (5,3%) deficiência de 5-alfa redutase. Achados clínicos freqüentemente observados nessas pacientes incluíram desenvolvimento anormal dos caracteres sexuais secundários (n=19), agenesia uterina com vagina em fundo de saco (n=14), história familiar de amenorréia (n=8) e gônadas palpáveis no canal inguinal (n=5). Duas delas apresentavam história de hérnia inguinal. Hipertensão arterial sistêmica foi diagnosticada somente na paciente com deficiência de 17-alfa hidroxilase, e malignização gonadal, naquela com DGP XY. CONCLUSÕES: a freqüência de pacientes com cariótipo XY (20%) foi superior à usualmente descrita na literatura (3 a 11%). Acreditamos que isso tenha relação com a forma de encaminhamento das pacientes ao Serviço. Certos achados da história clínica e do exame físico deveriam ser rotineiramente avaliados em indivíduos com amenorréia primária. Dessa forma, haveria um reconhecimento mais precoce das pacientes 46,XY e, conseqüentemente, um adequado manejo clínico das mesmas.Abstract PURPOSE: to verify the prevalence and clinical characteristics of patients with primary amenorrhea and XY caryotype, evaluated in our Service, aiming at identifying findings which could help their recognition. METHODS: from January 1975 to November 2007, 104 patients with amenorrhea were evaluated. All the cases were analyzed by the caryotype by GTG bands. Among them, 21 (20.2%) presented a XY 46 constitution. Nevertheless, two of them were excluded from the study, because of incomplete data in their patient's chart. Most of the 19 patients who formed the sample had been referred to us by the gynecology clinics (63.2%). Their ages varied from 16 to 41 years old (an average of 22.1). Data were collected about their family and previous history, physical examination and results of complementary exams and the information was taken into consideration to determine the...

show abstract

Early Diagnosis of 5α-Reductase Deficiency in Newborns

Cited by 43 publications

References 51 publications

Diagnosis of 5α-Reductase 2 Deficiency: Is Measurement of Dihydrotestosterone Essential?

Diagnosis of 5α-Reductase 2 Deficiency: Is Measurement of Dihydrotestosterone Essential?

Late Diagnosis of 5-α-Reductase Type 2 Deficiency in an Adolescent Girl with Primary Amenorrhoea: Case report

Amenorréia primária e cariótipo XY: identificando pacientes em risco

Contact Info

Product

Resources

About