Psychosexual outcomes in three siblings with partial androgen insensitivity syndrome: impact of nature versus nurture
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Angela Ann Joseph
and Manju Mehta
Abstract
There are few reports of adults with disorders of sexual development (DSD). Here we describe the clinical profile and results of psychological assessment of three siblings with 46, XY DSD caused by partial androgen insensitivity syndrome (PAIS). The elder sibling (aged 22 years) was reared as female, while the middle and youngest siblings (17 and 18 years of age), were reared as males. The gender identity was concordant with the sex of rearing. There was no gender dysphoria. The psychological distress that our patients experienced was due to the limitations placed on them by their medical condition. It did not permit them to experience various facets of being either male or female completely. The younger siblings reared as males had additional problems of gynecomastia and lack of male secondary sexual development.
References
1. Money J. Determinants of human gender identity/role. In: Money J, Musaph H, editors. Handbook of sexology. Amsterdam, The Netherlands: Elsevier, 1977:57–9.Search in Google Scholar
2. Prasad D, Verma SK. PGI battery of brain dysfunctions. Agra, India: National Psychological Corporation, 1985.Search in Google Scholar
3. Malin AJ. Malin’ s intelligence scale for Indian children (MISIC). Ind J Ment Retard 1969;4:15–25.Search in Google Scholar
4. Urban WH. The Draw-A-Person catalogue for interpretive analysis, 2nd ed. Los Angeles, CA: Western Psychological Services, 1967.Search in Google Scholar
5. Singh D, Deogracias JJ, Johnson LL, Bradley SJ, Kibblewhite SJ, Owen-Anderson A, et al. The gender identity/gender dysphoria questionnaire for adolescents and adults: further validity evidence. J Sex Res 2010;47:49–58.10.1080/00224490902898728Search in Google Scholar PubMed
6. Derogatis LR. Symptom checklist-90-revised. In: Handbook of psychiatric measures. Minneapolis, USA: American Psychiatric Association, NCS Pearson Inc. 2000:81–84.Search in Google Scholar
7. Coopersmith S. Self-esteem inventories. Palo Alto, CA: Consulting Psychologists Press Inc., 1981.10.1037/t06456-000Search in Google Scholar
8. Ahmed SF, Cheng A, Dovey L, Hawkins JR, Martin H, et al. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab 2000;85: 658–65.10.1210/jc.85.2.658Search in Google Scholar
9. T’Sjoen G, De Cuypere G, Monstrey S, Hoebeke P, Freedman FK, et al. Male gender identity in complete androgen insensitivity syndrome. Arch Sex Behav 2011;40:635–8.10.1007/s10508-010-9624-1Search in Google Scholar PubMed
10. Kulshreshtha B, Philibert P, Eunice M, Khandelwal SK, Mehta M, et al. Apparent male gender identity in a patient with complete androgen insensitivity syndrome. Arch Sex Behav 2009;38:873–5.10.1007/s10508-009-9526-2Search in Google Scholar PubMed
11. Melo KF, Mendonca BB, Billerbeck AE, Costa EM, Inácio M, et al. Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene. J Clin Endocrinol Metab 2003;88:3241–50.10.1210/jc.2002-021658Search in Google Scholar PubMed
12. Deeb A, Mason Y, Lee YS, Hugues IA. Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome. Clin Endocrinol (Oxf) 2005;63:56–6210.1111/j.1365-2265.2005.02298.xSearch in Google Scholar PubMed
13. Migeon CJ, Wisniewski AB, Gearhart JP, Meyer-Bahlburg HFL, Rock JA, et al. Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals: long-term medical, surgical, and psychosexual outcome. Pediatrics 2002;110:e31.10.1542/peds.110.3.e31Search in Google Scholar PubMed
14. Bouvattier C, Mignot B, Herve L, Morel Y, Bougneres P. Impaired sexual activity in male adults with partial androgen insensitivity. J Clin Endocrinol Metab 2006;91:3310–15.10.1210/jc.2006-0218Search in Google Scholar PubMed
15. Diamond M, Watson LA. Androgen insensitivity syndrome and Klinefelter’s syndrome. Sex and gender considerations. Child Adolesc Psychiatr Clin N Am 2004;13:623–40.10.1016/j.chc.2004.02.015Search in Google Scholar PubMed
16. Angela AA, Kulshreshtha B, Mehta M, Ammini AC. Sex of rearing seems to exert a powerful influence on gender identity in the absence of strong hormonal influence: report of two siblings with PAIS assigned different sex of rearing. J Pediatr Endocrinol Metab 2011;24:1071–5.Search in Google Scholar
©2013 by Walter de Gruyter Berlin Boston
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Articles in the same Issue
- Masthead
- Masthead
- Review article
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- Images in pediatric endocrinology
- Solitary median maxillary central incisor, a clinical predictor of hypoplastic anterior pituitary, ectopic neurohypophysis and growth hormone deficiency
- A rare case of granuloma annulare in a 6-year-old child with type 1 diabetes
- Original articles
- The arginine stimulation test: timing of peak is not a helpful parameter in the diagnosis of growth hormone deficiency
- The relationship between adiposity and stature in prepubertal children with celiac disease
- Influence of micronutrient status and socioeconomic gradient on growth indices of 2–18-year-old Indian girls
- Phosphotyrosine phosphatases in GH-stimulated skin fibroblasts from children with idiopathic short stature
- The relation between salivary cortisol and the metabolic syndrome score in girls
- Association of vitamin D concentrations with adiposity indices among preadolescent children in Korea
- Association of serum resistin levels with metabolic syndrome and early atherosclerosis in obese Chinese children
- Characteristics of infants at risk of hypoglycaemia secondary to being ‘infant of a diabetic mother’
- Parental dyadic coping in families of children and adolescents with type 1 diabetes
- Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome
- Effect of insulin therapy on IGF-1 level in children with new-onset type 1 diabetes mellitus: a comparison between DKA and non-DKA
- Mutation analysis of the SRD5A2, AR and SF-1 genes in 52 Chinese boys with hypospadias
- Sexual development in prepubertal obese boys: a 4-year longitudinal study
- Genetic diagnosis of one family with incomplete clinical data
- Patient reports
- Complete androgen insensitivity syndrome and discordant Müllerian remnants: two cases with novel mutation in the androgen receptor
- Psychosexual outcomes in three siblings with partial androgen insensitivity syndrome: impact of nature versus nurture
- Ambiguous genitalia in a 48, XXYY newborn: a casual relationship or a coincidence?
- Gonadal function of beta-thalassemics following stem cell transplantation conditioned with myeloablative and reduced intensity regimens
- Significant testicular enlargement in a 6.5-year-old boy with monorchism and testicular microlithiasis
- Report of the first case of precocious puberty in Rett syndrome
- Type II vitamin D-dependent rickets with diabetic ketoacidosis
- Pituitary gigantism presenting with depressive mood disorder and diabetic ketoacidosis in an Asian adolescent
- A rare association between Rathke’s cyst and hypophysitis in a patient with delayed sex development and growth failure
- Diabetes mellitus with Laron syndrome: case report
- Wegener granulomatosis as an uncommon cause of panhypopituitarism in childhood
- Rare cases of autoimmune hypothyroidism in young children
- Cushing syndrome related to leukemic infiltration of the central nervous system: a case report and a possible role of LIF
- Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy
- Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease
- Virilization in two pre-pubertal children exposed to topical androgen
- A family with Camurati-Engelman disease. The role of the missense p.R218C mutation in TGFB1 in bones and endocrine glands
- Short communications
- Plasma ceramides are elevated in female children and adolescents with type 2 diabetes
- Assessment of contractility and myocardial function in small and appropriate for gestational age premature neonates using the stress-velocity relationship and tissue Doppler imaging immediately after birth
- Letter to the Editors
- Homeostasis model assessment of insulin resistance may not be reliable to evaluate insulin sensitivity in young obese children
- Type 1 diabetes in women with endometriosis: what is the risk of occurrence?
- How should we manage vitamin D-deficient adolescents?
- Should neonatal hyperparathyroidism associated with mucolipidosis II/III be treated pharmacologically?a