Angela Ann Joseph

Spinal Cord Injury and Sexuality in Married or Partnered Men: Activities, Function, Needs, and Predictors of Sexual Adjustment

The sexual behaviors, functioning, needs, and sexual satisfaction levels of men with spinal cord injuries (SCI) were studied. A sample of 50 men with SCI (median age = 50; median age at injury = 25.0), either married or in a committed relationship, responded to an anonymous survey of a large southern California regional spinal injury rehabilitation center. Multiple regression analyses indicated that perceived partner satisfaction, relationship quality, and sexual desire were significant predictors of sexual satisfaction and behavior. Erectile function, level of genital sensation, and orgasmic capacity all varied widely in the sample, as well. However, none of these variables were significantly related to sexual satisfaction. A varied sexual repertoire was independently related to sexual satisfaction and behavior, but did not offer additional predictive power. Results suggest that for married or partnered men with SCI, relationship factors including partner satisfaction and relationship quality are significantly and positively related to sexual satisfaction. Married or partnered men with SCI who report low relationship satisfaction, have difficulty satisfying their partner, and/or report low sexual desire may benefit from assessments and interventions that address these issues.

Type 2 diabetes increases risk for obesity among subsequent generations.

BACKGROUND Childhood obesity is increasing worldwide. Although the prevalence of obesity is low in India, it is being perceived as an emerging problem among affluent urban Indian children. There is little information regarding the profile of obese Indian children. The aim of this study was to assess the clinical profile of children and adolescents attending our hospital (a tertiary-care center) with the main complaint of obesity or overweight. STUDY DESIGN Children and adolescents attending our pediatric and adolescent endocrine clinic with the main complaint of overweight or obesity were included in this study. All subjects underwent detailed history, physical examination, hemogram liver function tests, oral glucose tolerance test, plasma insulin, and body fat estimation. RESULTS One hundred nine children (70 boys and 39 girls), ranging in age from 5 to 18 years (mean 13.8 +/- 2.9 years), were enrolled for the study. Twenty boys and 13 girls were overweight, while 50 boys and 26 girls were obese. Twenty-five of these children had hypertension, 48 had dyslipidemia, and 27 had abnormal glucose tolerance. Plasma insulin levels were significantly higher than what is observed in healthy lean controls. The most significant observation was that 75 children had grandparents and/or parents with diabetes mellitus. Possible reasons for this association are discussed. CONCLUSIONS Children from families with diabetes mellitus are at risk for obesity. Hyperinsulinemia, by its action on the brain, induces behaviors and lifestyles conducive to obesity.

Diagnosis and management of classical congenital adrenal hyperplasia.

Congenital adrenal hyperplasia (CAH) is among the most common genetic disorders. Deficiency of adrenal steroid 21-hydroxylase deficiency due to mutations in the CYP21A2 gene accounts for about 95% cases of CAH. This disorder manifests with androgen excess with or without salt wasting. It also is a potentially life threatening disorder; neonatal screening with 17-hydroxyprogesterone measurement can diagnose the condition in asymptomatic children. Carefully monitored therapy with glucocorticoid and mineralocorticoid supplementation will ensure optimal growth and development for children with CAH. Genital surgery may be required for girls with CAH. Continued care is required for individuals with CAH as adults to prevent long-term adverse consequences of the disease, including infertility, metabolic syndrome and osteoporosis.

Phenotype, genotype and gender identity in a large cohort of patients from India with 5α-reductase 2 deficiency.

Deficiency of the 5α‐reductase 2 enzyme impairs the conversion of testosterone to dihydrotestosterone (DHT) and differentiation of external genitalia, seminal vesicles and prostate in males. The present study describes the phenotype, genotype and gender identity in a large cohort of patients with 5αRD2. All patients underwent detailed clinical evaluation, hormonal profile, karyotyping and molecular analysis of the SRD5A2 gene. The molecular analysis of the SRD5A2 gene showed the presence of mutant alleles in 24 patients. We found 6 novel mutations IVS(1‐2) T>C, p.A52T, 188‐189insTA, 904‐905ins A, p.A12T and p.E57X in our patients. All patients had ambiguous genitalia and the degrees of under‐virilization ranged from penoscrotal hypospadias and microphallus to clitoromegaly. The position of gonads was variable in patients with same mutation. All the patients with mutations in the SRD5A2 gene had male gender identity. Those reared as female had gender dysphoria and underwent gender reassignment. Though a specific genotype–phenotype correlation could not be established in our patient but confirming the diagnosis of 5αRD2 with assessment of the SRD5A2 gene may help in appropriate gender assignment.

Gender Issues and Related Social Stigma Affecting Patients with a Disorder of Sex Development in India

Children with disorders of sex development (DSD) manifest at birth with malformed genitalia or later with atypical pubertal development. Those born with malformed genitalia are often diagnosed at birth. However, in resource-poor countries like India, where not all births are supervised by healthcare workers, some of these children remain undiagnosed until puberty or even later. The aim of this study was to assess the gender issues and psychosocial problems of children with DSD. Participants included 205 children with DSD (103 with 46,XX DSD and 102 with 46,XY DSD). Both the children with DSD and their parents underwent semistructured interviews by a clinical psychologist. The birth of a child with DSD was perceived as a major medical and social problem by parents from all socioeconomic strata. Mothers were distressed as many believed the DSD condition was transmitted through the mother. Children who were not diagnosed and treated during infancy or early childhood experienced considerable social discrimination not only from relatives and friends but also from medical and paramedical staff in hospitals. Several patients had been operated during infancy without an etiological diagnosis and without provision of adequate information to the parents. Some children had problems related to complications of surgery. Most teenage patients with 5α-reductase-2 deficiency reared as females presented with gender dysphoria, while children with androgen insensitivity (except for one) or with gonadal dysgenesis developed a gender identity concordant with their gender of rearing. Parents of children with DSD preferred a male gender assignment for their children (if that was possible) because of the social advantages of growing up male in a patriarchal society.

Psychosexual outcomes in three siblings with partial androgen insensitivity syndrome: impact of nature versus nurture

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.

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.

Abstract There is an ongoing debate regarding the relative contribution of nurture over nature in development of gender identity. Patients with partial androgen insensitivity syndrome (PAIS) have ambiguous genitalia and are known to be reared as male or female. Familial cases of PAIS sharing common hormonal defects are usually reared in the same sex. Here, we describe two siblings with PAIS, one reared as a male and the other as female. These two siblings presented at adolescence. Gender identity was concordant with the sex of rearing for both. The male sibling was distressed with gynecomastia that had disrupted his social life. The sex of rearing seems to have played a predominant role in the formation of gender identity in these two patients with PAIS.

Homozygous p.R246Q Mutation and Impaired Spermatogenesis: Long Term Follow-up of 4 Children from One Family with 5 Alpha Reductase 2 Deficiency.

To the Editor: 5-alpha reductase 2 enzyme catalyses the conversion of Testosterone (T) to Dihydrotestosterone (DHT) in specific target tissues [1]. Children with 5 alpha reductase 2 deficiency (5αRD2) are born with malformed genitalia and about ~70 % of them opt for male gender at puberty [2]. The enzyme is encoded by SRD5A2 gene and mutations in this gene account for this disorder [3]. In this report, we describe the long term follow-up in terms of pubertal development in a family of all four children affected with 5αRD2. The eldest of the 4 siblings came to this tertiary care hospital with the complaint of primary amenorrhea at 13 y of age and later opted male genitoplasty. His two younger siblings also had genital ambiguity but were reared as boys. The 4th child had the appearance of the external genitalia, according to mother identical to that of the 1st child and she wished to raise this child as a female. All the four siblings showed 46, XY karyotype. The hormonal profile of these children suggested diagnosis of 5αRD2, as DHT was low and T/DHT was elevated (normal T/DHT < 10). Sequence analysis of SRD5A2 gene showed p.R246Q homozygous mutation (exon 5) in all the four siblings (III.17, 18, 19, 20). Mother (II.1) was heterozygous for this mutation (Fig. 1). Psychological assessment (of 3 older siblings) revealed no gender dysphoria, however they experienced certain amount of psychological distress. Semen analysis revealed low semen volume, there were no sperms in samples analysed prior to age 20 y and the counts decreased subsequently. This may suggest delay in spermatogenesis and early senescence of germ cells. Previously Marumudi et al., observed progressive reduction of sperm count in a patient with 5αRD2 and p.R246Q homozygous mutation where the count decreased from 16 million cells/ml to azoospermia [4]. In our patients, the presence of p.R246Q homozygous mutation may be responsible for the decreased sperm count. We observed that phenotype and psychological wellbeing were not identical in these children with same genotype and family environment. Spermatogenesis started late and lasted for only few years in these patients. * Eunice Marumudi marumudieunice@gmail.com

Management of Sleep Problems

A change in sleep patterns often accompanies the onset of adolescence. Declining parental involvement in bedtime routines, increasing academic pressure, emergence of several distracters such as social media, Internet, electronic gadgets and cell phones have contributed in the shift towards later bedtimes from pre-adolescent to adolescent years. As a result, sleep debt accumulates over time leading to sleep deprivation which can have disastrous consequences on the physical, emotional and cognitive functioning of the individual. Chronic sleep deprivation leads to insufficient sleep which is major sleep problem faced by adolescents today. Sleep assessment is done using subjective and objective methods. Subjective methods include clinical sleep history taking which include physical examination, psychosocial history, interviews regarding bedtime routines and nocturnal behaviour. Several parent rated and self-rated questionnaires are also used for screening sleep disorders such as sleep-related breathing difficulties, restless legs syndrome, delayed sleep phase syndrome and narcolepsy. Objective methods include sleep diaries/sleep logs, actigraphy, polysomnography and multiple sleep latency tests. Early intervention at the school level (pre-adolescent stage) is important for inculcating healthy sleep habits. Sleep education during early years can help prevention of sleep problems as many of these problems are maintained due to maladaptive sleep hygiene practises. This chapter focuses on adolescent sleep struggles specifically insufficient sleep and discusses intervention strategies which include sleep education, stimulus control and sleep hygiene, troubleshooting adolescent’s difficulties in adhering to treatment guidelines, barriers to treatment followed by conclusions and future directions.

5 α-Reductase Type 2 Deficiency — Response to Dihydrotestosterone Gel: Correspondence

To The Editor: In the article by Madhavarao et al., recently published in Indian Journal of Pediatrics, the authors have described response to Dihydrotestosterone (DHT) gel in a case with 5 α-reductase 2 deficiency (5αRD). The child was put on three monthly intramuscular testosterone injections (25 mg), which increased the stretched penile length (SPL) to 2.1 cm from initial SPL of 1.3 cm and both the testes descended to labioscrotal folds with increase in rugosity. The authors also reported that the application of DHT gel increased SPL to 3 cm within 1 mo and later to 3.4 cm after 5 mo [1]. We also observed increase in SPL after application of DHT cream in one of our patients with 5αRD. Our patient, born of a consanguineous marriage, was reared as female until 13 y when diagnosis of 46, XY DSD was made. He had small phallus (SPL 2.5 cm) with chordee, bifid scrotum and penoscrotal hypospadias. USG revealed left testis was in labioscrotal fold and right testis in inguinal canal. His basal hormonal levels were LH 5.96 mIU/mL, FSH 15.83 mIU/mL, Testosterone (T) 4.35 ng/mL, DHT 210 pg/mL, T/DHT 20.7, Androstenedione (A) 0.92 ng/mL, T/A 4.7. DHT and Awere estimated by radio immuno assay (RIA) after Celitechromatography. He was advised to apply DHT cream over the phallus. On next follow up at 7 mo, the SPL had increased to 5 cm. Psychological evaluation revealed male gender identity. Most of our peri-pubertal children with 5αRD had opted for male genitoplasty [2]. Molecular genetic studies revealed homozygous missense mutation of R246Q on exon 5 of SRD5A2 gene. This mutation has been reported by some centers from India [3, 4]. To correct cryptorchidism, alternative treatment with hCG is recommended [5].