Dataset Information

Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother.

ABSTRACT: CONTEXT:X-linked acrogigantism (X-LAG), a condition of infant-onset acrogigantism marked by elevated GH, IGF-1, and prolactin (PRL), is extremely rare. Thirty-three cases, including three kindreds, have been reported. These patients have pituitary adenomas that are thought to be mixed lactotrophs and somatotrophs. CASE DESCRIPTION:The patient's mother, diagnosed with acrogigantism at 21 months, underwent pituitary tumor excision at 24 months. For more than 30 years, stable PRL, GH, and IGF-1 concentrations and serial imaging studies indicated no tumor recurrence. During preconception planning, X-LAG was diagnosed: single-nucleotide polymorphism microarray showed chromosome Xq26.3 microduplication. After conception, single-nucleotide polymorphism microarray on a chorionic villus sample showed the same microduplication in the fetus, confirming familial X-LAG. The infant grew rapidly with rising PRL, GH, and IGF-1 concentrations and an enlarging suprasellar pituitary mass, despite treatment with bromocriptine. At 15 months, he underwent tumor resection. The pituitary adenoma resembled the mother's pituitary adenoma, with tumor cells arranged in trabeculae and glandular structures. In both cases, many tumor cells expressed PRL, GH, and pituitary-specific transcription factor-1. Furthermore, the tumor expressed other lineage-specific transcription factors, as well as SOX2 and octamer-binding transcription factor 4, demonstrating the multipotentiality of X-LAG tumors. Both showed an elevated Ki-67 proliferation index, 5.6% in the mother and 8.5% in the infant, the highest reported in X-LAG. CONCLUSIONS:This is a prenatally diagnosed case of X-LAG. Clinical follow-up and biochemical evaluation have provided insight into the natural history of this disease. Expression of stem cell markers and several cell lineage-specific transcription factors suggests that these tumors are multipotential.

SUBMITTER: Wise-Oringer BK

PROVIDER: S-EPMC6736216 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature

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Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother.

Wise-Oringer Brittany K BK Zanazzi George J GJ Gordon Rebecca J RJ Wardlaw Sharon L SL William Christopher C Anyane-Yeboa Kwame K Chung Wendy K WK Kohn Brenda B Wisoff Jeffrey H JH David Raphael R Oberfield Sharon E SE

The Journal of clinical endocrinology and metabolism 20191001 10

<h4>Context</h4>X-linked acrogigantism (X-LAG), a condition of infant-onset acrogigantism marked by elevated GH, IGF-1, and prolactin (PRL), is extremely rare. Thirty-three cases, including three kindreds, have been reported. These patients have pituitary adenomas that are thought to be mixed lactotrophs and somatotrophs.<h4>Case description</h4>The patient's mother, diagnosed with acrogigantism at 21 months, underwent pituitary tumor excision at 24 months. For more than 30 years, stable PRL, GH ...[more]

PMID: 31166600

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Project description:BACKGROUND:Mother-to-infant bonding is defined as the emotional tie experienced by a mother towards her child, which is considered to be important for the socio-emotional development of the child. Numerous studies on the correlates of both prenatal and postnatal mother-to-infant bonding quality have been published over the last decades. An up-to-date systematic review of these correlates is lacking, however. OBJECTIVE:To systematically review correlates of prenatal and postnatal mother-to-infant bonding quality in the general population, in order to enable targeted interventions. METHODS:MEDLINE, Embase, CINAHL, and PsychINFO were searched through May 2018. Reference checks were performed. Case-control, cross-sectional or longitudinal cohort studies written in English, German, Swedish, Spanish, Norwegian, French or Dutch defining mother-to-infant bonding quality as stipulated in the protocol (PROSPERO CRD42016040183) were included. Two investigators independently reviewed abstracts, full-text articles and extracted data. Methodological quality was assessed using the National Institute of Health Quality Assessment Tool for Observational Cohort and Cross-sectional studies and was rated accordingly as poor, fair or good. Clinical and methodological heterogeneity were examined. MAIN RESULTS:131 studies were included. Quality was fair for 20 studies, and poor for 111 studies. Among 123 correlates identified, 3 were consistently associated with mother-to-infant bonding quality: 1) duration of gestation at assessment was positively associated with prenatal bonding quality, 2) depressive symptoms were negatively associated with postnatal mother-to-infant bonding quality, and 3) mother-to-infant bonding quality earlier in pregnancy or postpartum was positively associated with mother-to-infant bonding quality later in time. CONCLUSION:Our review suggests that professionals involved in maternal health care should consider monitoring mother-to-infant bonding already during pregnancy. Future research should evaluate whether interventions aimed at depressive symptoms help to promote mother-to-infant bonding quality. More high-quality research on correlates for which inconsistent results were found is needed.

Project description:BackgroundIn high-income countries delivery usually takes place in a short-stay hospital setting and includes limited specific care after discharge. Perinatal system performance is therefore predominantly expressed in direct terms of delivery outcomes such as preterm birth (PTB), small for gestational age (SGA) or, in case of the mother, perineal rupture and haemorrhage. Additional postnatal complications may emerge, but their incidence is largely unknown. The Dutch obstetric system includes an 8-10 day episode of professional postnatal home maternity care. Our aim was to establish, under routine conditions, the incidence of a comprehensive set of 67 predefined complications and their predictors. A second aim was to address interaction between maternal and child complications.MethodsThe study design was a prospective cohort study of all clients of one large maternity care organization receiving home maternity care in November 2014. We combined maternal background and intrapartum and postnatal characteristics with complication data, routinely recorded by home maternity care assistants. Complication prevalence rates per postnatal day were calculated. Univariate and multivariable logistic regression were used to predict the presence of postnatal complications.ResultsComplications occurred throughout the entire episode of home maternity care and prevalence was high, with 55% of all mother-baby pairs experiencing at least one complication (e.g. cracked nipples, >10% weight loss of the baby) and 5% at least one major complication (e.g. mastitis, cyanosis of the baby). Predictive ability of maternal background and intrapartum and postnatal variables on presence of complications was moderate (max. 62.9%), even when a cumulative risk score was used.ConclusionsThe prevalence rates of maternal and neonatal postnatal complications with care as usual in high-income countries was higher than expected. Professional postnatal follow-up is to be considered in order to timely detect and manage emerging complications with minimal delay. Opportunities for risk-guided care should be investigated further. The pattern of complications in low-income countries remains to be established.

Dataset Information

Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother.

Publications

Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother.

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