ESPE Abstracts (2019) 92 P2-265

Hormonal Assessment of Malformation Syndromes Associated with Disorders of Sex Development: Case Series of 9 Patients

Shaymaa Mahfouz, Yasmine Abdelmeguid


Faculty of medicine- Alexandria University, Alexandria, Egypt


Introduction: Disorder of sex development (DSD) is a challenging condition confronting the patients, their relatives and the clinicians. It is more challenging when this disorder is associated with other extra-genital malformations. This makes their overall management more complex than if they just had DSD. Moreover, some of them have disturbed testicular function.

Aim of the work: this work aimed at clinical review of 9 cases with malformation syndromes associated with DSD and evaluation of their testicular hormonal status.

Subjects and Methods: patients with syndromic DSD attending the Endocrinology clinic in Alexandria University Children's Hospital were assessed on emphasis on detailed history taking, thorough clinical examination (genital and extra-genital examination), reproductive hormonal assessment, karyotype analysis and the appropriate imaging study.

Results: Upon review of 9 cases with malformation syndromes associated with XY DSD, they had variable extra-genital manifestations such as steroid resistant nephritic syndrome, hypothyroidism, learning disabilities, skeletal anomalies, cardiac anomalies, renal anomalies and choanal atresia. Three patients were diagnosed as definite syndromes. Two cases had Robinow syndrome and one case had chromosome 13 q deletion syndrome. The remaining 6 patients having multiple malformations were not yet diagnosed as definite syndromes. Furthermore, these malformation syndromes were classified into two subtypes. The first group including 5 patients had abnormalities of hormonal function. In the second subtype, 4 patients have normal sex hormones but have a primary morphological defect of genital development. The first group included the two Robinow syndrome patients, two patients with gonadal dysgenesis and one patient with inadequate testosterone response after hCG stimulation. The second group patients had average testicular hormonal function either in mini-puberty or after hCG stimulation with normal T/DHT ratio.

Conclusion: Malformation syndromes with XY DSD are more challenging conditions either in work up to reach the definite diagnosis or in counseling for families about their affected children or other siblings. Even in syndromic XY DSD, there is a possibility of disordered testicular hormonal function that becomes overt in some patients. That highlights the importance of adequate hormonal assessment in all patients with XY DSD even those with other malformations.

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