Continent cutaneous diversion and external genitalia reconstruction in a child with severe variety urogenital sinus and ambiguous genitalia

The different types of ambisexual development have been described. It is most important in earliest infancy to differentiate, on the basis of the 17-ketosteroid excretion, female pseudohermaphroditism due to congenital adrenal hyperplasia from other forms of ambisexual development. The female pseudohermaphrodites should be reared as girls and treated with cortisone according to the methods described. Surgical exploration is not indicated. If the clitoris is enlarged it should be removed before school age and the urogenital sinus corrected to form a separate vagina. With cortisone therapy continued normal female development can be assured. When the adreno-genital syndrome has been excluded, all patients with ambiguous genitalia should be submitted to careful urethroscopic study and exploratory laparotomy. This applies also to individuals who appear to be cryptorchid males with hypospadias and those resembling females with gonads in the groins or labia. These procedures should be carried out in the earliest months of life and a definite decision made as to the sex in which the child is to be reared. Abundant evidence has been accumulated that an individual's gender role and erotic orientation are established through the cumulative experiences of years of living as a boy or a girl. Irrespective of chromosomes, gonads or hormones, the child who from earliest infancy has been steadfastly accepted as a girl or as a boy, particularly if the external genitals have been altered to conform to this sex, will not question his own gender and will conform to the habits and behavior of the sex of rearing. When there is prolonged doubt and uncertainty on the part of the parents or when a change of sex is imposed after an early age and before late adolescence the child will be confused and perplexed and psychologic difficulties result. Accordingly, every effort should be made in early infancy to decide the sex of rearing and the parents should be given support, guidance and reassurance. Necessary corrective operations should be undertaken as early in life as possible. No change from the original decision should be made in later childhood. It is advisable to select the sex of rearing according to the anatomic structure of the external genitalia rather than the type of gonads or the sex chromosomal pattern. To attempt to make a boy of an individual who does not have a fairly well-developed phallus is unwise and condemns the patient to a life of misery. Male pseudohermaphrodites who have external genitalia of female configuration invariably feminize at puberty, so that orchidectomy is not necessary to prevent masculinization. Its only indication might be to avoid the possible risk of testicular malignancy. Male pseudohermaphrodites whose genitalia resemble the male or are ambiguous may either masculinize or feminize at puberty. If it is decided to raise such a child as a female because of the small size of the phallus, orchidectomy may be performed in infancy to avoid the risk of masculinization or it may be postponed until masculinization begins. The former course often seems preferable. At puberty estrogen should be given in doses adequate to develop female sex characteristics. In these cases gonadectomy cannot be considered a mutilating operation or one which deprives the patient of fertility. On the contrary it is one which enables the patient to continue as a reasonably normal individual in the sex in which he has been reared and prevents the disastrous psychologic upheaval of a sex reversal.

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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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45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

Sao Paulo Medical Journal ◽

10.1590/1516-3180.2014.1326729 ◽

2014 ◽

Vol 132 (6) ◽

pp. 332-338 ◽

Cited By ~ 17

Author(s):

Rafael Fabiano Machado Rosa ◽

Willy Francisco Bartel D'Ecclesiis ◽

Raquel Papandreus Dibbi ◽

Rosana Cardoso Manique Rosa ◽

Patrícia Trevisan ◽

...

Keyword(s):

Retrospective Study ◽

Turner Syndrome ◽

Early Recognition ◽

External Genitalia ◽

Ambiguous Genitalia ◽

Referral Hospital ◽

Clinical Genetics ◽

Sex Development ◽

Genital Ambiguity ◽

The Individual

CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.DESIGN AND SETTING: A retrospective study in a referral hospital in southern Brazil.METHODS: Our sample consisted of patients diagnosed at the clinical genetics service of a referral hospital in southern Brazil, from 1975 to 2012. Clinical and cytogenetic data were collected from the medical records.RESULTS: Fourteen patients were included in the sample, with ages at the first evaluation ranging from 2 days to 38 years. Nine of them had female sex of rearing and five, male. Regarding the external genitalia, most were ambiguous (n = 10). One patient presented male phenotype and was treated for a history of azoospermia, while three patients presented female phenotype, of whom two had findings of Turner syndrome and one presented secondary amenorrhea alone. Some findings of Turner syndrome were observed even among patients with ambiguous genitalia. None presented gonadal malignancy. One patient underwent surgical correction for genital ambiguity and subsequent exchange of sex of rearing. Regarding cytogenetics, we did not observe any direct correlation between percentages of cell lines and phenotype.CONCLUSIONS: 45,X/46,XY mosaicism can present with a wide variety of phenotypes resulting from the involvement of different aspects of the individual. All these observations have important implications for early recognition of these patients and their appropriate management.

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Binding of androgens in 5α-reductase-deficient human genital skin fibroblasts: inhibition by progesterone and its metabolites

Journal of Endocrinology ◽

10.1677/joe.0.0940415 ◽

1982 ◽

Vol 94 (3) ◽

pp. 415-427 ◽

Cited By ~ 13

Author(s):

M. B. Hodgins

Keyword(s):

Androgen Receptor ◽

Androgen Receptors ◽

Cultured Cells ◽

Reductase Activity ◽

External Genitalia ◽

Skin Fibroblasts ◽

Urogenital Sinus ◽

Receptor Complexes ◽

High Affinity ◽

Receptor Sites

Binding of [3H]testosterone and 5α-dihydro[3H]testosterone ([3H]DHT) to specific androgen-receptor sites of 5α-reductase-deficient human genital skin fibroblasts (five cell-lines) was studied in the intact cultured cells at 37 °C. Under the conditions of the experiments, conversion of [3H]testosterone into [3H]DHT was negligible. Both steroids bound to the same set of high-affinity saturable sites in cytoplasmic and nuclear fractions of the cells. Unlabelled testosterone, DHT and methyltrienolone competed effectively with the labelled steroids. Progesterone and oestradiol were weaker competitors; cortisol did not compete. The dissociation constant (Kd) for high-affinity complexes with [3H]testosterone (0·44 ± 0·035 nmol/l) was higher than that for [3H]DHT complexes (0·20 ± 0·090 nmol/l). Unlabelled DHT was more effective than unlabelled testosterone in competing with either radioactive steroid. Complexes of [3H]DHT and receptor dissociated more slowly than [3H]testosterone-receptor complexes and [3H]DHT bound more extensively to low-affinity non-saturable sites in fibroblasts. As judged by competition with the radioactive androgens, progesterone bound to the androgen receptor with a Kd of about 7 nmol/l. 5α-Pregnane-3,20-dione had an approximately fivefold lower affinity than progesterone for androgen receptors; 3α/β- or 20α-reduction lowered its affinity further. It is suggested that in 5α-reductase deficiency in man, progesterone in amniotic fluid and blood could effectively inhibit testosterone binding to androgen receptors in the male embryonic external genitalia. One function of the high levels of 5α-reductase activity normally found in embryonic external genitalia and urogenital sinus may be to protect these tissues from the potentially antiandrogenic action of progesterone.

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Up-to-Date Clinical and Biochemical Workup of the Child and the Adolescent with a Suspected Disorder of Sex Development

Hormone Research in Paediatrics ◽

10.1159/000519895 ◽

2021 ◽

pp. 279-290 ◽

Cited By ~ 1

Author(s):

Romina P. Grinspon ◽

Sebastián Castro ◽

Rodolfo A. Rey

Keyword(s):

External Genitalia ◽

Ambiguous Genitalia ◽

Diagnostic Approach ◽

Reproductive Hormone ◽

Imaging Studies ◽

Disorder Of Sex Development ◽

Surgical Exploration ◽

Sex Development ◽

Internal Genitalia ◽

17 Hydroxyprogesterone

Background: The suspicion of a disorder of sex development (DSD) often arises at birth, when the newborn presents with ambiguous genitalia, or even during prenatal ultrasound assessments. Less frequently, the aspect of the external genitalia is typically female or male, and the diagnosis of DSD may be delayed until a karyotype is performed for another health issue, or until pubertal age when a girl presents with absence of thelarche and/or menarche or a boy consults for gynaecomastia and/or small testes. Summary: In this review, we provide a practical, updated approach to clinical and hormonal laboratory workup of the newborn, the child, and the adolescent with a suspected DSD. We focus on how to specifically address the diagnostic approach according to the age and presentation. Key Message: We particularly highlight the importance of a detailed anatomic description of the external and internal genitalia, adequate imaging studies or surgical exploration, the assessment of reproductive hormone levels – especially testosterone, anti-Müllerian hormone, 17-hydroxyprogesterone, and gonadotropins – and karyotyping.

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A neglected case of treatable genetic disorder

Indian Journal of Pharmaceutical and Biological Research ◽

10.30750/ijpbr.4.4.1 ◽

2016 ◽

Vol 4 (04) ◽

pp. 01-03

Author(s):

C. Rekha ◽

R. Paramaguru ◽

Vimala Sarojini ◽

Dinisha Einstien ◽

A. Prathiba

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Genetic Disorder ◽

External Genitalia ◽

Female Child ◽

Ambiguous Genitalia ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Adrenal Hormones ◽

Stage 4 ◽

21 Hydroxylase Deficiency

Congenital adrenal hyperplasia(CAH) is a autosomal recessive genetic disorder involving adrenal hormones resulting in excessive production of androgens and hence their effects. Here we report a case of CAH which was diagnosed very late but was treated successfully. 12 years old female child came to us with ambiguous genitalia. Examination showed praders stage 4 external genitalia. Evaluated further and confirmed as a case of classic type of simple virilising congenital adrenal hyperplasia due to 21 hydroxylase deficiency. She was successfully treated with steroids and surgical correction was also done. Now child has also attained menarche and on follow up at our pediatric out patient department.

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A psychosocial rehabilitation approach for a case of persistent urogenital sinus with ambiguous genitalia in a female adult

Asian Journal of Medical Sciences ◽

10.3126/ajms.v6i4.10107 ◽

2014 ◽

Vol 6 (4) ◽

pp. 89-91

Author(s):

Seema Chowdhary ◽

Arvind Kumar Chowdhary ◽

Sushma Pandey

Keyword(s):

Treatment Options ◽

Serum Testosterone ◽

Ambiguous Genitalia ◽

Young Female ◽

Urogenital Sinus ◽

Congenital Deformity ◽

Female Adult ◽

Diagnostic Features ◽

Mullerian Anomaly ◽

Persistent Urogenital Sinus

Objective: Urogenital Sinus is a rare congenital deformity which overture to preclude of normal embryonic vaginal progression. We report a case of urogenital sinus with ambiguous genitalia in a female adult. Case Report: An unmarried young female aged 26 years presented to our hospital with amenorrhea of 6 months and history of urinary incontinence from childhood. The diagnostic features of this case include normal haemogram with mildly elevated blood urea and creatinine, normal 17 ketosteroids, serum testosterone and DHEA; bilateral moderate hydronephrosis with uterus of size 6.8 x 4.6 x 5.3 cm; urogenital sinus with partial separation of bladder and vagina-vaginal type; bilateral hydrouretronephrosis with mild renal cortical scarring and bicornuate unicollis uterus cervix opening into the urogenital sinus. She was diagnosed with persistent urogenital sinus (Vaginal type) without congenital adrenal hyperplasia, but with associated mullerian anomaly. Treatment option was a U-shaped vaginoplasty with an aim of widening vaginal introitus and advancement of hypospadiac external urethral meatus to prevent micturition into vagina. Conclusion: Though the possible treatment options were discussed, this case study emphasizes the need of psycho social rehabilitation for the proper treatment of ambiguous genitalia. DOI: http://dx.doi.org/10.3126/ajms.v6i4.10107 Asian Journal of Medical Sciences Vol.6(4) 2015 89-91

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FEMALE PSEUDOHERMAPHRODITISM WITH HYPOADRENIA

PEDIATRICS ◽

10.1542/peds.5.6.972 ◽

1950 ◽

Vol 5 (6) ◽

pp. 972-987

Author(s):

THEODORE C. PANOS

Keyword(s):

External Genitalia ◽

Exploratory Laparotomy ◽

Urogenital Sinus ◽

Normal Female ◽

Adrenocortical Insufficiency ◽

Primordial Follicles ◽

Female Pseudohermaphroditism ◽

Loss Of Weight ◽

Internal Genitalia ◽

Desoxycorticosterone Acetate

Two infants presenting the syndrome of true female pseudohermaphroditism and associated hypoadrenia have been described. The essentially identical clinical features encountered in these infants may be summarized as follows: 1. Characteristic history with (a) anorexia, noted shortly after birth; (b) weakness; (c) vomiting, repeated and frequently projectile, beginning at about 3 weeks of age; (d) frequent attacks of diarrhea; (e) progressive loss of weight; (f) emaciation; severe dehydration and shock at about the age of 3 to 4 months. 2. Abnormalities of the external genitalia: (a) a greatly enlarged clitoris simulating a penis as to size, shape, ventral bowing and preputial covering; (b) a "urinary meatus" situated along the under surface of the clitoris or the perineum; (c) a "scrotal sac," bifid or united in the midline with a median raphe, with typical corrugations and exhibiting the dartos effect. 3. Occurrence of crises associated with decrease in the sodium and chloride and elevation of the potassium of the serum. 4. Elevated urinary excretion of 17-ketosteroids. 5. Special urologic studies: (a) urethrocystoscopy which revealed the presence of a urogenital sinus, bladder trigone of the female type, "prostatic urethra" which contains a flattened veru montanum and an elongated utricle; (b) retrograde injection of radiopaque dye through the utricular slit resulted in definite colpohysterosalpingograms with free dye spilled out into the peritoneal cavity. 6. Exploratory laparotomy disclosed the presence of normal female internal genitalia and the absence of male gonadal tissue. 7. Biopsy of the ovaries disclosed primordial follicles. 8. Satisfactory response to the management of the adrenocortical insufficiency by the administration of sodium chloride alone or in combination with desoxycorticosterone acetate. The advisability of surgical resection of the adrenals in order to diminish the production of androgens is discussed. In the event there are no signs of adrenocortical insufficiency, it is suggested that excision of adrenocortical tissue be performed even though the improvement effected may be small and of a temporary nature. On the other hand, where hypoadrenia is a part of the clinical picture such surgery would be distinctly hazardous and would therefore seem contraindicated. The importance of safeguarding the healthy psychologic development of these patients is emphasized.

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Transsphinctericanorectal reconstruction of ambiguous genitalia: an innovative approach to neovaginoplasty, pioneer in Brazil

Sao Paulo Medical Journal ◽

10.1590/s1516-31801995000600005 ◽

1995 ◽

Vol 113 (6) ◽

pp. 1022-1032 ◽

Cited By ~ 1

Author(s):

Albany Braz ◽

Maria Cristina Martoni Andrade

Keyword(s):

Surgical Approach ◽

Surgical Procedure ◽

Ambiguous Genitalia ◽

Previous Experience ◽

Innovative Approach ◽

Urogenital Sinus ◽

International Literature ◽

Surgical Indications ◽

Female Pseudohermaphroditism ◽

Protective Colostomy

The authors, based upon previous experience in the treatment of ten children with cloacal abnormalities, among which two with female pseudohermaphroditism with cloaca, hereby present a pioneer experience in Brazil, with the "posterior sagittal transsphinctericanorectalurethrovaginoplasty" a surgical approach to neovaginoplasty described by "Cripps/Peña", which was utilized for the reconstruction of the genitalia of three intersexuated adolescents with protective colostomy, who presented an urogenital sinus, high vaginal implantation and a normal rectum. One patient was an adrenal female pseudohermaphrodite and two were male pseudohermaphrodites. The authors present a brief report on the three cases, describe the surgical procedure, relate on the anatomy of the urogenital sinus and discuss surgical indications, diagnosis and results, comparing them to the reviewed international literature.

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A Case of Persistent Urogenital Sinus: Pitfalls and challenges in diagnosis

Sultan Qaboos University Medical Journal [SQUMJ] ◽

10.18295/squmj.2017.17.04.013 ◽

2018 ◽

Vol 17 (4) ◽

pp. 455 ◽

Cited By ~ 1

Author(s):

Hooi H. Tan ◽

Shung K. Tan ◽

Rajah Shunmugan ◽

Rozman Zakaria ◽

Zakaria Zahari

Keyword(s):

Pelvic Mass ◽

External Genitalia ◽

Female Child ◽

Cystic Mass ◽

Urogenital Sinus ◽

Spontaneous Vaginal Delivery ◽

Clean Intermittent Catheterisation ◽

Single Opening ◽

Surgical Separation ◽

Persistent Urogenital Sinus

Persistent urogenital sinus (PUGS) is a rare anomaly whereby the urinary and genital tracts fail to separate during embryonic development. We report a three-year-old female child who was referred to the Sabah Women & Children Hospital, Sabah, Malaysia, in 2016 with a pelvic mass. She had been born prematurely at 36 gestational weeks via spontaneous vaginal delivery in 2013 and initially misdiagnosed with neurogenic bladder dysfunction. The external genitalia appeared normal and an initial sonogram and repeat micturating cystourethrograms did not indicate any urogenital anomalies. She therefore underwent clean intermittent catheterisation. Three years later, the diagnosis was corrected following the investigation of a persistent cystic mass posterior to the bladder. At this time, a clinical examination of the perineum showed a single opening into the introitus. Magnetic resonance imaging of the pelvis revealed gross hydrocolpos and a genitogram confirmed a diagnosis of PUGS, for which the patient underwent surgical separation of the urinary and genital tracts.

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