BACKGROUND: Although a karyotype represents the first objective evidence of investigating a case of suspected disorder of sex development (DSD), the factors that influence the clinician's decision to initiate investigations are unclear. METHODS: Cases of suspected DSD in Scotland were identified through the Scottish Genital Anomaly Network (SGAN) Register. The timing as well as other factors that influence the decision to perform a karyotype were subsequently studied. RESULTS: Out of the 572 cases on the register, 383 (67%) were classified as having a non-specific disorder of under-masculinisation. In 463 (81%) cases, the sex of rearing was male, in 71 (12%) female, and in 38 (7%) cases data regarding sex of rearing were unavailable. A karyotype was reported to have been performed in 153/572 (27%) cases. Infants in Scotland with suspected DSD are more likely to have a karyotype performed in the presence of a low external masculinisation score, bilateral impalpable testes, proximal hypospadias, or associated malformations. DISCUSSION: These data represent the first attempt at benchmarking the decision to check a karyotype and investigate infants with suspected DSD. Whilst this decision may be related to the complexity of the genital anomaly, there are other factors that may influence this decision, and these require further exploration through more rigorous systems for data collection.
BACKGROUND: Although a karyotype represents the first objective evidence of investigating a case of suspected disorder of sex development (DSD), the factors that influence the clinician's decision to initiate investigations are unclear. METHODS: Cases of suspected DSD in Scotland were identified through the Scottish Genital Anomaly Network (SGAN) Register. The timing as well as other factors that influence the decision to perform a karyotype were subsequently studied. RESULTS: Out of the 572 cases on the register, 383 (67%) were classified as having a non-specific disorder of under-masculinisation. In 463 (81%) cases, the sex of rearing was male, in 71 (12%) female, and in 38 (7%) cases data regarding sex of rearing were unavailable. A karyotype was reported to have been performed in 153/572 (27%) cases. Infants in Scotland with suspected DSD are more likely to have a karyotype performed in the presence of a low external masculinisation score, bilateral impalpable testes, proximal hypospadias, or associated malformations. DISCUSSION: These data represent the first attempt at benchmarking the decision to check a karyotype and investigate infants with suspected DSD. Whilst this decision may be related to the complexity of the genital anomaly, there are other factors that may influence this decision, and these require further exploration through more rigorous systems for data collection.
Authors: A Lucas-Herald; S Bertelloni; A Juul; J Bryce; J Jiang; M Rodie; R Sinnott; M Boroujerdi; M Lindhardt Johansen; O Hiort; P M Holterhus; M Cools; G Guaragna-Filho; G Guerra-Junior; N Weintrob; S Hannema; S Drop; T Guran; F Darendeliler; A Nordenstrom; I A Hughes; C Acerini; R Tadokoro-Cuccaro; S F Ahmed Journal: J Clin Endocrinol Metab Date: 2016-07-12 Impact factor: 5.958
Authors: R Nixon; V Cerqueira; A Kyriakou; A Lucas-Herald; J McNeilly; M McMillan; A I Purvis; E S Tobias; R McGowan; S F Ahmed Journal: Hum Reprod Date: 2017-10-01 Impact factor: 6.918
Authors: Ilanna Fragoso Peixoto Gazzaneo; Camila Maia Costa de Queiroz; Larissa Clara Vieira Goes; Victor José Correia Lessa; Reinaldo Luna de Omena Filho; Diogo Lucas Lima do Nascimento; Reginaldo José Petroli; Susane Vasconcelos Zanotti; Isabella Lopes Monlleó Journal: Rev Paul Pediatr Date: 2015-10-09
Authors: L Audi; S F Ahmed; N Krone; M Cools; K McElreavey; P M Holterhus; A Greenfield; A Bashamboo; O Hiort; S A Wudy; R McGowan Journal: Eur J Endocrinol Date: 2018-10-01 Impact factor: 6.664