Endocrine Abstracts

Background: Alström Syndrome (ALMS, OMIM 203800) is an ultra-rare disease caused by autosomal recessive mutations of the ALMS1 gene (2p13). ALMS is characterized by double sensory impairment and systemic comorbidities, including hyperandrogenism in female patients. Fertility issue and conception have not been systematically studied.

Case: This case report describes the pregnancy and birth by an ALMS patient with mild phenotype, characterized by late onset visual impairment, hypertension and mild cardiac fibrosis at MRI. Patient had no history of hyperphagia, metabolic, hepatic, nephrological comorbidities and auditory disorders. From a gynecological point of view, menarche occured at the age of twelve years and the following menses was regular, she had a Tanner stage of 5 for breast development and 3 for pubic hair representation. The year before her pregnancy her hormonal evaluation on follicular phase showed normal levels of gonadotropin, prolactin, oestradiol, progesterone, testosterone, dehydroepiandrosterone-sulfate, SHBG, TSH, insulin, fasting glucose and increased levels of Dihydrotestosterone (1.33 nmol/l normal values 0.08-1.26) and androstanediol glucuronide (7.70 mg/l normal values 0.34-7.53). She had conceived spontaneously in January 2020. A rigorous clinical follow-up of maternal and fetal conditions was carried out. A weight gain of 10 kg during pregnancy was recorded. The course of pregnancy was normal up to 34 weeks gestation when preeclampsia developed. She was treated with corticosteroid as prophylaxis for respiratory distress syndrome, nifedipine, ursodeoxycholic acid, Alfametildopa and Labetalol. Due to patient′s preeclampsia and elevated blood pressure, a cesarean section was performed at 35 weeks plus 3 days of gestation. A healthy male weighing 1.950 g was born. Histological examination of the placenta showed partial signs of flow obstruction, limited abruption areas, congested fetal vessels and villi, and a small single infarcted area.

Conclusion: The present case demonstrates that, although hyperandrogenism and comorbidities, conceiving is possible for ALMS patients. A particular attention can be observed for management of systemic comorbidities.