Pregnancy in multiple endocrine neoplasia type 1 equals multiple complications

Abstract

Multiple endocrine neoplasia type 1 (MEN 1) is a rare inherited disorder caused by mutations in the tumour suppressor gene MEN 1. It is characterised by a predisposition towards the development of parathyroid, anterior pituitary and entero-pancreatic tumours. Clinically, MEN 1 is defined following development of two out of these three tumours. There have been no published cases of the management of MEN 1 in pregnancy. We report the first case of a 31-year-old primigravida with a confirmed diagnosis of MEN 1 prior to conception. Due to the rare nature of MEN 1, there are no guidelines on how such women should be managed. The main issues were to assess and manage potential complications, such as hypercalcaemia, diabetes mellitus and the symptoms from a pituitary tumour as well the issues around a gastrinoma and monitor fetal well-being. A Caesarean section was performed at 35 weeks gestation for a growth-restricted fetus with raised umbilical artery Dopplers. The neonate was treated with intravenous calcium secondary to hypocalcaemia. The patient and neonate recovered well. We have demonstrated successful management of a woman with MEN 1 who completed her pregnancy with few complications and a healthy neonate. It is vital for such women to be managed in the context of a multidisciplinary team setting to optimise maternal and fetal outcomes.

No evidence of adverse fertility and pregnancy outcomes in patients with unrecognized and untreated multiple endocrine neoplasia type 1

“…While some instances of MEN 1‐related pathology directly impairing reproductive potential were evident within the Tasman 1 kindred, MEN 1 positivity did not appear to detrimentally impact fertility or in utero viability of the neonate for the majority of MEN 1 carriers. Thus, our data complement existing case reports, suggesting that for a subset of MEN 1 + patients with high‐risk phenotypes, targeted intervention may be required. However, for the majority of MEN 1‐related pregnancies, judicious investigation and a tendency towards careful antenatal observation may be a reasonable approach.…”

“…Despite the early onset of MEN 1‐associated manifestations that may impact reproductive health, data concerning the impact of MEN 1 on pregnancy and fertility is limited to isolated case reports and inference from experience with more common sporadic single organ dysfunction, such as isolated primary hyperparathyroidism . Directly translating experience from sporadic single organ dysfunction to patients with MEN 1 may not be appropriate as the pathophysiology, natural history and sequelae of MEN 1‐related primary hyperparathyroidism and prolactinoma differs compared to sporadic counterparts .…”

“…Directly translating experience from sporadic single organ dysfunction to patients with MEN 1 may not be appropriate as the pathophysiology, natural history and sequelae of MEN 1‐related primary hyperparathyroidism and prolactinoma differs compared to sporadic counterparts . Existing case reports of MEN 1‐associated pregnancies highlight challenging cases of MEN 1 during pregnancy; however, these may be biased towards a complex subset of MEN 1 patients. A comprehensive perspective on the impact of MEN 1 status on fertility is lacking.…”

“…7 Despite the early onset of MEN 1-associated manifestations that may impact reproductive health, data concerning the impact of MEN 1 on pregnancy and fertility is limited to isolated case reports and inference from experience with more common sporadic single organ dysfunction, such as isolated primary hyperparathyroidism. 12,13 Directly translating experience from sporadic single organ dysfunction to patients with MEN 1 may not be appropriate as the pathophysiology, natural history and sequelae of MEN 1-related primary hyperparathyroidism and prolactinoma differs compared to sporadic counterparts. 6,[14][15][16] Existing case reports of MEN 1-associated pregnancies highlight challenging cases of MEN 1 during pregnancy 12,13 ; however, these may be biased towards a complex subset of MEN To determine the natural history of unrecognized MEN 1 on fertility and pregnancy outcomes we examined the effect of (a) parental MEN 1 status overall and (b) maternal and paternal MEN 1 status on reproductive outcomes.…”

The clinical expression and impact of multiple endocrine neoplasia 1 during pregnancy

“…However, there is little published research regarding the impact of MEN 1 on pregnancy and a corresponding lack of data to guide antenatal management. Two case studies including a total of two primigravid women during their pregnancy have provided some insight 4,5 . The first by Mistry et al 5 documented the successful delivery of a live born neonate in a MEN 1 positive mother with known prepregnancy PHPT, macroprolactinoma, gastrinoma and type 2 diabetes mellitus.…”