A non-surgical approach to 46,XY differences in sex development through hormonal suppression at puberty: a single-center case series study.

Abstract

PURPOSE:

We aim to report outcomes and safety with hormonal suppression to facilitate gonadal preservation in a select group of patients with 46,XY differences in sex development (DSD) who are raised and identify as female yet have diagnoses with potential for androgenization at puberty.

METHODS:

We performed a retrospective review of the past 10 years of DSD patients treated by a multidisciplinary program. Inclusion criteria were 46,XY DSD, female sex of rearing, risk of androgenization at puberty, and plan for hormonal suppression at puberty. Patients on hormonal suppression had at least 6 months of follow-up from initiation. We excluded those with complete gonadal dysgenesis or complete androgen insensitivity.

RESULTS:

Four patients met inclusion criteria. Initial evaluation by DSD team was at a mean age of 6.6 years (3 weeks-16 years). All patients were evaluated in a coordinated multidisciplinary clinic. The diagnoses are listed in Table 1. Mean follow-up was 5.7 years (1.2-10.9 years). One patient presented as an infant, and is being monitored until Tanner stage 2 and/or serum hormonal evidence to initiate hormonal suppression. Three patients have been receiving hormonal suppression for 1.4 years (1.1-1.9 years) without side effects or complication. Three patients were initiated with estrogen replacement to promote desired breast development. At last follow-up, all patients had retained their gonads, all have female gender identity with no reported gender dysphoria, and no progression of androgenization.

CONCLUSIONS:

In our initial experience, gonadal preservation with hormonal suppression is a tool in multidisciplinary management of select DSD patients with female gender identity with conditions associated with androgenization at puberty. Patients' growth, bone health, and overall psychosocial well-being will need to be monitored closely.

• Authors: Katie L Canalichio, Margarett Shnorhavorian, Anne-Marie Amies Oelschlager, Linda Ramsdell, Christina Fisher, Margaret P Adam, Patricia Y Fechner
• Journal: Endocrine (Endocrine) Vol. 70 Issue 1 Pg. 170-177 (10 2020) ISSN: 1559-0100 [Electronic] United States
• PMID: 32643049 (Publication Type: Journal Article)

Topics

• Child
• Female
• Gender Identity
• Gonadal Dysgenesis, 46,XY
• Humans
• Infant
• Male
• Puberty
• Retrospective Studies
• Sexual Development