Long-term outcomes of the surgical treatment of girls with a classical form of congenital adrenal hyperplasia

Introduction. Currently, to study long-term outcomes of feminizing genitoplasty, which is performed to girls with congenital adrenal hyperplasia, is an important step due to the limited data in literature on this topic. The purpose was to assess long-term outcomes of feminizing genitoplasty in congenital adrenal hyperplasia in girls depending on their gender identity, sexual orientation and the anatomy of external genitalia and vagina.Material and methods. A retrospective analysis of 8 case–histories of girls who were operated on at the Arkhangelsk Regional Children’s Hospital in 2001-2004 was made. In 7 of them, who had low urogenital sinus, feminizing genitoplasty included vaginoplasty with a perineal flap; in one patient, who had a high urogenital sinus, the shortened vagina was advanced down to create a missing part with posterior skin (Fortunoff) and anterior mucous (Passerini) flaps. The Prader scores ranged from III to V. Mean age at the time of surgery was 5.6 y.o. (0.5-14). Mean follow-up period was 17.6 (16-18.5) years.Results. All patients had female gender identity. All four sexually active women reported heterosexual orientation. Cosmetic results were good as stated by physicians, parents and patients themselves. Vaginal stenosis was noted only in one patient.Conclusion. The results obtained have shown that the one-stage reconstruction (clitoroplasty and vaginoplasty) for congenital adrenal hyperplasia can be successfully performed in childhood; thus, there is no any reason to refuse of the accepted tactics in treating this group of patients.

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Feminizing genitoplasty in childhood: aiming for achievable outcomes

Annals of Pediatric Surgery ◽

10.1186/s43159-020-00044-w ◽

2020 ◽

Vol 16 (1) ◽

Author(s):

Amr Abdelhamid AbouZeid

Keyword(s):

Congenital Adrenal Hyperplasia ◽

External Genitalia ◽

Urogenital Sinus ◽

Sexually Active ◽

Adrenal Hyperplasia ◽

Vaginal Reconstruction ◽

Feminizing Genitoplasty ◽

Early Reconstruction ◽

Different Cultures

Abstract Background Early genital reconstruction may be recommended in cases of congenital adrenal hyperplasia to avoid the stigma that can affect these individuals with variable degrees through different cultures. However, the separation and mobilization of a high vagina has remained challenging with less satisfactory surgical outcomes. Therefore, the value of early vaginal reconstruction has been questioned in favour of delaying the whole repair after puberty. In this report, the author has adopted the third option in-between, which comprises early reconstruction of the external genitalia and delaying the more challenging vaginal reconstruction (if needed) to be performed after puberty. Results The study included ten consecutive cases of CAH who underwent feminizing genitoplasty during the period 2016 through 2019. Their age at operation ranged from 8 to 84 months (mean 31; median 15). In five cases (50%), the technique of limited urogenital sinus mobilization adopted in this report succeeded in bringing the vaginal introitus down to the perineum. Those cases had originally a low vagina. In the rest of cases, labial retraction showed a common but wide urogenital introitus perfectly lined by urogenital mucosa. The outcomes have been considered satisfactory to a great extent for both parents and doctors regarding cosmesis and lack of functional complications (voiding problems). Longer follow up is still needed to assess the sexual function when these girls become sexually active. Conclusion In cases of congenital adrenal hyperplasia, reduction clitoroplasty combined with partial urogenital sinus mobilization can achieve predictable and satisfactory outcomes. In about 50% of cases, this approach is sufficient to bring the vagina down to the perineum. In the other half of cases with higher vagina, the possibility of satisfactory sinus intercourse can be studied when these girls grow and become sexually active; otherwise, a delayed vaginal reconstruction may turn to be necessary.

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Long term outcomes in 46, XX adult patients with congenital adrenal hyperplasia reared as males

The Journal of Steroid Biochemistry and Molecular Biology ◽

10.1016/j.jsbmb.2016.03.033 ◽

2017 ◽

Vol 165 ◽

pp. 12-17 ◽

Cited By ~ 14

Author(s):

A. Khattab ◽

M. Yau ◽

A. Qamar ◽

P. Gangishetti ◽

A. Barhen ◽

...

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Adult Patients ◽

Adrenal Hyperplasia ◽

Long Term Outcomes

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Case Report of Feminizing Genital Reconstruction in a Female with Congenital Adrenal Hyperplasia

Macedonian Medical Review ◽

10.1515/mmr-2017-0023 ◽

2017 ◽

Vol 71 (2) ◽

pp. 131-135

Author(s):

Lazo Noveski ◽

Vladimir Ginoski ◽

Boro Dzonov ◽

Elizabeta Zogovska Mircevska

Keyword(s):

Congenital Adrenal Hyperplasia ◽

External Genitalia ◽

Ambiguous Genitalia ◽

Urogenital Sinus ◽

Surgical Reconstruction ◽

Team Approach ◽

Adrenal Hyperplasia ◽

Adrenal Steroidogenesis ◽

Severity Of The Disease ◽

Simple Virilizing

Abstract Introduction. Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. In approximately 90-95% of the CAH cases, it is a deficiency of the enzyme steroid 21-hydroxylase. The degree of enzyme insufficiency determines the severity of the disease. In the simple virilizing type of CAH dominant symptoms are virilization in girls and precocious puberty in boys. Virilizing type of CAH is the most common etiology of ambiguous genitalia in women. There are several options for surgical reconstruction of such anomalies, which must always be optimized to the patient’s anatomy, to achieve a good esthetic and functional result. Detailed presentation of the case. The paper presents the case of a 36-year old woman with delayed pediatric diagnosis of simple virilizing type of CAH, due to deficiency of 21-hydroxylase, pronounced phenotypic virilization, clitoromegaly, hyperpigmentation of the external genitalia, vaginal hypoplasia and existence of low confluence of the urethra with the vagina in so called low type of urogenital sinus andbilateral micromastia, also called mammary hypoplasia. The patient underwent augmention mammoplasty, clitoroplasty, reduction of clitoral hood and proximal labioplasty. Discussion. CAH is a continuum of disorders, affecting patients throughout the life. Feminizing genitoplasty includes three parts: clitoroplasty, labioplasty and vaginoplasty. Clitorectomy in modern times is unacceptable option. Conclusion. Surgical management and reconstruction in women with simple virilizing type CAH and ambiguous genitalia remains still controversial and emotionally laden area in reconstructive surgical activity and requires a team approach.

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Congenital Adrenal Hyperplasia: Diagnosis, Management, and Long Term Outcomes

2014 Meet-The-Professor: Endocrine Case Management ◽

10.1210/mtp3.9781936704835.ch6 ◽

2014 ◽

pp. 28-32

Author(s):

Ariachery C. Ammini

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Adrenal Hyperplasia ◽

Long Term Outcomes

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Prenatal Treatment of Congenital Adrenal Hyperplasia: Long-Term Effects of Excess Glucocorticoid Exposure

Hormone Research in Paediatrics ◽

10.1159/000485100 ◽

2018 ◽

Vol 89 (5) ◽

pp. 362-371 ◽

Cited By ~ 10

Author(s):

Svetlana Lajic ◽

Leif Karlsson ◽

Anna Nordenström

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Experimental Studies ◽

External Genitalia ◽

Prenatal Treatment ◽

Adrenal Hyperplasia ◽

Long Term Effects ◽

Term Outcome ◽

Long Term Outcome ◽

Negative Effect

Prenatal treatment of congenital adrenal hyperplasia with dexamethasone (DEX) has been in use since the mid-1980s and has proven effective at reducing virilization of external genitalia in affected girls. However, multiple experimental studies on animals and clinical studies on humans show that prenatal administration of glucocorticoids may cause unwanted adverse effects which have raised concerns about the long-term safety of the treatment. The long-term outcome of prenatal DEX treatment on cognition has been investigated, but the results are still conflicting. Overall, most of the evidence points towards a negative effect on executive functions where girls seem to be more susceptible than boys. Some effects on social behavior have been observed, but results are still contradictory and treated children are mostly well adapted. Cardiovascular, renal, and metabolic function are still areas to be investigated. Larger studies are warranted to investigate areas other than cognition and behavior and to be able to draw more definitive conclusions about prenatal DEX treatment.

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