ESPE Abstracts (2019) 92 P2-274

Chu Mohammed VI Oujda, Oujda, Morocco

Introduction: 46 XY sex development disorders are a group of rare congenital conditions in which chromosomal, gonadal or anatomic sex is atypical. Less than 20% of cases have a precise genetic diagnosis.

We report here the case of a patient suffering from a 46 XY sexual development disorder secondary to the MAMLD 1 gene mutation.

Observation: The patient is a nine month infant who was admitted for abnormalities of the external genital organs. The physical examination, revealed a 1.5 cm micropenis with posterior hypospadias, and normal positioned gonads. Blood karyotype showed 46 XY chromosome formula with a positive SRY gene.

Exocrine testicular function was found to be normal with an AMH level of 236,9 ng/ml, while endocrine function assessments are planned. The genetic study revealed a new mutation of the MAMLD 1 gene (c.G 2217 A:p.W739X). The patient has benefited from a cure of hypospadias and bifurcated scrotum, as well as several courses of medical micropenis therapy (cutaneous dihydrotestosterone treatment).

Discussion: The MAMLD 1 gene is located at the position 28 of the long arm of the X chromosome.

This gene's mutation is responsible for the fetal Leydig cells function alteration during the critical period of sexual development. At birth, it leads to a 46 XY sexual development disorder. Therefore, testicular function is most often conserved during infancy, but it needs surveillance as it may deteriorate in long term.

Volume 92

58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

European Society for Paediatric Endocrinology 

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