How the Child’s Gender Matters for Families Having a Child With Congenital Adrenal Hyperplasia

Abstract

Children with congenital adrenal hyperplasia (CAH) are exposed to high levels of testosterone in utero often resulting in nontypical genitalia at birth for girls. The purpose of this analysis, which draws on data from a larger study, was to examine, based on the gender of the child, the family experiences of having a child with CAH. Sixteen parents were interviewed, and comparisons were made across all categories coded in the parents' interviews to examine similarities and differences in the experiences of families based on the child's gender. Families having a daughter with CAH experienced additional challenges when compared with families having a son. These include fear of stigmatization, challenging surgical decisions, and concerns regarding disclosure of the condition. Acknowledging this and creating support programs tailored for girls that address surgical procedures and complications resulting from being born with elevated testosterone are critical to promoting a healthy family and child response.

Parent Experiences and Preferences When Dysmelia Is Identified During the Prenatal and Perinatal Periods: A Qualitative Study Into Family Nursing Care for Rare Diseases

“…When parents were first told there was something "wrong," this increased their anxiety and led them to think their baby had died or had clear systemic health problems. Second, where previous studies have highlighted the importance of not making insensitive statements (Chaplin et al, 2005;Fleming et al, 2017), the current study suggests that the impact of insensitive questions can be equally or more upsetting, and any questions relating to the cause of the limb difference should be delayed until parents have had time to recover from feelings of shock. Third, the present findings suggest that when the limb difference is identified prenatally, health care providers should not immediately discuss termination.…”

“…Parent experiences of health care provision and staff communication when any fetal anomaly or birth defect is identified can have a profound emotional impact, with negative experiences contributing to heightened stress (Askelsdóttir, Conroy, & Rempel, 2008; Fleming, Knafl, & Van Riper, 2017). Parent preferences for care at this time include the use of clear but sensitive language by health care providers (Asplin, Wessel, Marions, & Öhman, 2012; Lalor, Devane, & Begley, 2007); receiving verbal and written information about the abnormality (Alkazaleh et al, 2004; Asplin et al, 2012; Lalor, Begley, & Galavan, 2008); and experiencing minimal delays between identification of the initial problem and the communication of this to parents (Alkazaleh et al, 2004).…”

“…Parent preferences for care at this time include the use of clear but sensitive language by health care providers (Asplin, Wessel, Marions, & Öhman, 2012; Lalor, Devane, & Begley, 2007); receiving verbal and written information about the abnormality (Alkazaleh et al, 2004; Asplin et al, 2012; Lalor, Begley, & Galavan, 2008); and experiencing minimal delays between identification of the initial problem and the communication of this to parents (Alkazaleh et al, 2004). However, services often fail to deliver this and parents frequently report experiencing delays (Askelsdóttir et al, 2008; Mitchell, 2004; Van der Zalm & Byrne, 2006), confusing information (Asplin et al, 2012; Oscarsson, Gottvall, & Swahnberg, 2015), insensitive language from staff (Fleming et al, 2017; Mitchell, 2004), and feeling unsupported (McKechnie, Pridham, & Tluczek, 2016).…”

Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report

“…Other virilizing forms include 3β-hydroxysteroid dehydrogenase and 11β-hydroxylase deficiencies associated with mutations in the 3β-hydroxysteroid dehydrogenase (HSD3B2) and 11β-hydroxylase (CYP11B1) genes, respectively. 5 Females with classic 21-hydroxylase deficiency are exposed to excess androgens prenatally and are born with virialized external genitalia. 6 Management of the patient with genital anomalies should consist of a multi-team approach with the active participation of parents.…”

Congenital adrenal hyperplasia with salt-wasting crisis and arrhythmia: a case study

“…These patients cannot synthesise sufficient aldosterone to maintain sodium balance and may develop potentially fatal ‘salt-wasting’ crisis if not treated. Females with classic 21-hydroxylase deficiency are exposed to excess androgens prenatally and are born with virilised external genitalia 3. Males have no genital ambiguity to alert physicians before the onset of dehydration and shock, hence the diagnosis is particularly critical in them 4.…”