Anatomical measurements of the urogenital sinus in virilized female children due to congenital adrenal hyperplasia

Abstract Background Shared decision-making (SDM) is the process by which patients/families and providers make healthcare decisions together. Our team of multidisciplinary disorders of sex development (DSD) has developed an SDM tool for parents and female patients with congenital adrenal hyperplasia (CAH) and associated genital atypia. What is new Elective genital surgery is considered controversial. SDM in a patient with genital atypia will allow patient/family to make an informed decision regarding surgical intervention. Case presentation Our patient is a 2.5-year-old female with CAH and genital atypia. Initially, her parents had intended to proceed with surgery; however, after utilizing the SDM checklist, they made an informed decision to defer urogenital sinus surgery for their daughter. Conclusions We successfully utilized an SDM tool with parents of a female infant with CAH and genital atypia, which allowed them to make an informed decision regarding surgery for their daughter. Future directions include a prospective enrolling study to determine the generalizability and applicability of SDM with families of children diagnosed with CAH.

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Variations in the 3′UTR of theCYP21A2Gene in Heterozygous Females with Hyperandrogenaemia

International Journal of Endocrinology ◽

10.1155/2017/8984365 ◽

2017 ◽

Vol 2017 ◽

pp. 1-8 ◽

Cited By ~ 3

Author(s):

Vassos Neocleous ◽

Pavlos Fanis ◽

Meropi Toumba ◽

Alexia A. P. Phedonos ◽

Michalis Picolos ◽

...

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Untranslated Regions ◽

Heterozygous Mutation ◽

Adrenal Hyperplasia ◽

Mild Form ◽

Increased Risk ◽

Female Children ◽

17 Hydroxyprogesterone ◽

Genotype Correlation

Heterozygosity forCYP21A2mutations in females is possibly related to increased risk of developing clinical hyperandrogenism. The present study was designed to seek evidence on the phenotype-genotype correlation in female children, adolescents, and women withCYP21A2mutations and variants in the 3′UTR region of the gene. Sixty-six patients out of the 169 were identified as carriers ofCYP21A2mutations. Higher values of stimulated 17 hydroxyprogesterone (17-OHP) levels were found in the carriers of the p.Val281Leu mutation compared to the carriers of other mutations (mean: 24.7 nmol/l versus 15.6 nmol/l). The haplotype of the∗52C>T,∗440C>T, and∗443T>C in the 3′UTR was identical in all heterozygous patients with p.Val281Leu and the haplotype of the∗12C>T and∗52C>T was identical in all heterozygous patients with the p.Gln318∗. In conclusion, hyperandrogenaemic females are likely to bear heterozygousCYP21A2mutations. Carriers of the mild p.Val281Leu mutation are at higher risk of developing hyperandrogenism than the carriers of more severe mutations. The identification of variants in the 3′UTR ofCYP21A2in combination with the heterozygous mutation may be associated with the mild form of nonclassic congenital adrenal hyperplasia and reveal the importance of analyzing theCYP21A2untranslated regions for the appropriate management of this category of patients.

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Serum 3α-androstanediol glucuronide measurements in children with congenital adrenal hyperplasia

Acta Endocrinologica ◽

10.1530/eje.0.1310504 ◽

1994 ◽

Vol 131 (5) ◽

pp. 504-508 ◽

Cited By ~ 3

Author(s):

Sükrü Hatun ◽

Nurşen Yordam ◽

Ali Süha Çalikoǧlu

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Control Group ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Female Children ◽

The Mean ◽

Simple Virilizing ◽

17 Hydroxyprogesterone ◽

21 Hydroxylase Deficiency ◽

Androstanediol Glucuronide

Hatun Ş, Yordam N, Çalikoǧlu AS. Serum 3α-androstandiol glucuronide measurements in children with congenital adrenal hyperplasia. Eur J Endocrinol 1994;131:504–8. ISSN 0804–4643 To determine the value of 3α-androstanediol glucuronide (3-AG) measurements in children with congenital adrenal hyperplasia, we compared serum 3AG, 17-hydroxyprogesterone (17-OHP), androstenedione (A), testosterone (T) and dihydrotestosterone (DHT) levels and 24-h urinary 17-ketosteroid (17-KS) excretion in 42 female children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, including 27 with the simple virilizing and 15 with the salt-losing form. Their mean age was 74.5 ±48.5 months (range, 6–194 months). Twenty-four-hour urinary 17-KS excretion and serum 3-AG, A, T, DHT and 17-OHP levels were measured in the patients. The values were less than the mean + 2 sd of the control group in 63%, 74%, 67%, 69%, 60% and 31% of the patients, respectively. Serum 3-AG levels correlated with 24-h urinary 17-KS excretion (r = 0.66) and plasma A (r = 0.80), 17-OHP (r = 0.56), T (r = 0.79) and DHT (r = 0.62) levels. We conclude that serum 3-AG is a useful metabolic index in the management of children with congenital adrenal hyperplasia. Şükrü Hatun, Türk-İş Blk, 274/7, Aydinlikevler, Ankara, Turkey

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Evaluation of the early outcomes of partial urogenital sinus mobilization in females with congenital adrenal hyperplasia

Annals of Pediatric Surgery ◽

10.1186/s43159-020-00024-0 ◽

2020 ◽

Vol 16 (1) ◽

Author(s):

Ahmed Oshiba ◽

Khaled Ashour ◽

Ahmed Khairi ◽

Sameh Shehata ◽

Shaymaa ElSayed ◽

...

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Urogenital Sinus ◽

Adrenal Hyperplasia

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

Russian Journal of Pediatric Surgery ◽

10.18821/1560-9510-2021-25-2-104-108 ◽

2021 ◽

Vol 25 (2) ◽

pp. 104-108

Author(s):

N. D. Shiryaev ◽

I. M. Kagantsov ◽

P-E. Gravem

Keyword(s):

Gender Identity ◽

Congenital Adrenal Hyperplasia ◽

External Genitalia ◽

Female Gender ◽

Urogenital Sinus ◽

Adrenal Hyperplasia ◽

Long Term Outcomes ◽

Feminizing Genitoplasty ◽

The One

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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Laparoscopically Assisted Vaginal Pull-Through in 7 Cases of Congenital Adrenal Hyperplasia with High Urogenital Sinus Confluence: Early Results

Journal of Laparoendoscopic & Advanced Surgical Techniques ◽

10.1089/lap.2018.0194 ◽

2019 ◽

Vol 29 (2) ◽

pp. 256-260

Author(s):

Ahmed E. Fares ◽

Mahmoud M. Marei ◽

Khaled S. Abdullateef ◽

Sherif Kaddah ◽

Gamal El Tagy

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Urogenital Sinus ◽

Adrenal Hyperplasia ◽

Early Results ◽

Pull Through

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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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