Clinical profile and biomolecular assessment of a group of patients suspected 46 xy dsd in an african setting

Suzanne Sap; Mbono Ritha Carole; Gaelle Ntsoli; HIKA Marguerite EDONGUE; Chetcha Adele Bodieu; Ingrid Plotton; Boniface Moiffo

doi:10.1530/endoabs.110.EP1376

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Endocrine Abstracts (2025) 110 EP1376 | DOI: 10.1530/endoabs.110.EP1376

ECEESPE2025 ePoster Presentations Reproductive and Developmental Endocrinology (128 abstracts)

Clinical profile and biomolecular assessment of a group of patients suspected 46 xy dsd in an african setting

Suzanne Sap ¹ , Ritha Carole Mbono ² , Gaelle Ntsoli ³ , Marguerite EDONGUE HIKA ⁴ , Adele Bodieu Chetcha ⁵ , Ingrid Plotton ⁶ & Boniface Moiffo ⁴

Author affiliations

¹University of Ebolowa, Peadiatrics, Mother and Child Center, Yaounde, Cameroon; ²The University of Douala, Laquintinie Hospital, Department of Pediatrics, Douala, Cameroon; ³Laquintinie hospital, Douala, Cameroon; ⁴The University of Yaounde 1, Yaoundé, Cameroon; ⁵Central Hospital Yaounde, Laquintinie Hospital, Yaoundé, Cameroon; ⁶Service de médecine et de la reproduction, Hospices civils de Lyon, Université Claude Bernard Lyon 1, U1208, Lyon, France

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Introduction: Aetiological diagnosis of patients with abnormal genitalia remains a big challenge in African context. Despite a proposed algorithm, difficulties related to arrival out of mini puberty (gonadotrophic axis then difficult to explore), unavailability of AMH dosage are some limiting factors for diagnosis of those suspected 46 XY DSD according to Hughes et al classification. We aim to explore clinical and biomolecular profile of this group f patients to better understand their aetiology in our context.

Methods: We did a retrospective observational study on a period of 11 years in the endocrinology and diabetology unit of the Mother and child center in Yaounde. We included all patients with a suspected 46 XY DSD according classification of Hughes et al. With limited resources, all patients with a least one palpable gonad was considered as “suspected 46 XY patient” (operational definition). Those with diagnosis of ovotesticular DSD after morphological exam were excluded from our analysis. We then explore their clinical profile, hormonal assay and when available biomolecular findings.

Results: We found 64 patients with our operational definition, ovotestis excluded. There were 3 missing files and we included 61 patients in our analysis. All the patients were born at term. Two was reported to have acute foetal distress at birth. Most of the patients had a unique orifice 97.7%. The localisation of the orifice was penoscrotal in two third of patients realising a severe hypospadias. Both right and left gonads were reported palpable by hands of clinicians in 70% of patients. The localisation was mostly inguinal (incompletely descended). In two patients, a mullerian structure was found despite a clear description of two homogenous gonads by 3 senior radiologists. The karyotype was available for 27 patients from which, a clear anomaly was found in 9 (33%): 4 had PAIS, 3 mixed gonadal dysgenesis, one with 5alpha reductase mutation, one with SF1 mutation. For two third of patients, further analysis might be necessary.

Conclusions: Suspected 46 XY patients presents with severe hypospadias, with mostly 2 palpable gonads in the inguinal region. When biomolecular are performed, an aetiology is found in one third of the patients.