Disorders of sex development-when and how to tell the patient.

Pediatr Endocrinol Rev. 2011 Mar;8(3):213-7

Authors: Austin J, Tamar-Mattis A, Mazur T, Henwood MJ, Rossi WC

Physicians and other providers are often confronted with difficult decisions in the area of disclosure. This article examines a hypothetical situation relevant to the practice of pediatric endocrinology. The parents of a child with a disorder of sex development (DSD) wish the physician to treat their child, but without revealing key medical information to the child. Herein, we will explore the legal and ethical responsibilities of a provider to disclose information to an under-age DSD patient and to provide insight on when and how to tell the patient.

PMID: 21525798 [PubMed - in process]

Normal Sex Differences in Prenatal Growth and Abnormal Prenatal Growth Retardation Associated with 46,XY Disorders of Sex Development Are Absent in Newborns with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Biol Sex Differ. 2011 May 5;2(1):5

Authors: Chalmers LJ, Doherty P, Migeon CJ, Copeland KC, Bright BC, Wisniewski AB

ABSTRACT: BACKGROUND: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common presentation of a disorder of sex development (DSD) in genetic females. A report of prenatal growth retardation in cases of 46,XY DSD, coupled with observations of less-than-optimal final height in both males and females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, prompted us to investigate prenatal growth in the latter group. Additionally, because girls with congenital adrenal hyperplasia are exposed to elevated levels of androgens in the absence of a male sex chromosome complement, the presence or absence of typical sex differences in growth observed in newborns would support or refute a hormonal explanation for these differences. METHODS: A total of 105 newborns affected by congenital adrenal hyperplasia were identified in our database. Gestational age (weeks), birth weight (kg), birth length (cm) and parental heights (cm) were obtained. Mid-parental height was considered in the analyses. RESULTS: Mean birth weight percentile for congenital adrenal hyperplasia was 49.26 %, indicating no evidence of a difference in birth weight from the expected standard population median of 50th percentile (p > .05). The expected sex difference in favor of heavier males was not observed (p > .05). Forty-four of the 105 subjects (27%; 34 females and 10 males) had birth length and gestational age recorded in their medical chart. Mean birth length for this subgroup was 50.90 cm or 63rd percentile, which differed from the expected standard population median of 50th percentile (p = 0.0082). The expected sex difference in favor of longer males was also not observed (p > .05). CONCLUSION: The prenatal growth retardation patterns reported in cases of 46,XY disorders of sex development do not generalize to individuals affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Sex differences in body weight and length typically seen in young infants were not observed in the subjects who participated in this study. We speculate that these differences were ameliorated in this study due to elevated levels of prenatal androgens experienced by the females.

PMID: 21545705 [PubMed - as supplied by publisher]