Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency

2015 ◽  
Vol 28 (7-8) ◽  
Author(s):  
Korcan Demir ◽  
Melek Yıldız ◽  
Özlem Nalbantoğlu Elmas ◽  
Hüseyin Anıl Korkmaz ◽  
Selma Tunç ◽  
...  
Keyword(s):  
Chorionic Gonadotropin ◽  
Sexual Development ◽  
External Genitalia ◽  
Hydroxysteroid Dehydrogenase ◽  
First Case ◽  
Disorder Of Sexual Development ◽  
Low Testosterone ◽  
Low Levels ◽  
Type 3 ◽  
Female External Genitalia

AbstractWe report two newborns with female external genitalia and bilateral inguinal swelling who were diagnosed with 17β-hydroxysteroid dehydrogenase type 3 deficiency, a rare cause of 46,XY disorder of sexual development. The first case had normal clitoral size and vaginal and urethral openings, palpable gonads in the inguinal region, low testosterone, and low levels of basal and GNRH-stimulated gonadotropin. The second case had similar external genitalia, low testosterone but borderline basal and normal stimulated gonadotropin levels. Low testosterone/androstenedione ratios (0.22 and 0.24, respectively; normal, >0.8) after human chorionic gonadotropin stimulation indicated 17β-hydroxysteroid dehydrogenase type 3 deficiency.

46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report

2021 ◽  
Vol 10 (1) ◽  
pp. 45-47
Author(s):  
Anil Kumar Sah ◽  
Bipin Maharjan ◽  
Mahesh Bahadur Adhikari ◽  
Suman Baral ◽  
Mimi Giri
Keyword(s):  
Case Report ◽  
Sexual Development ◽  
Dehydrogenase Deficiency ◽  
External Genitalia ◽  
Hydroxysteroid Dehydrogenase ◽  
Androgen Action ◽  
Disorder Of Sexual Development ◽  
Insufficiency Syndrome ◽  
Atypical Development ◽  
Female External Genitalia

Disorder of Sexual Development (DSD) is a group of congenital conditions with atypical development of sex at chromosomal, gonadal or anatomic level. Genetic males with DSD (46 XY DSD) can present with female external genital phenotype, ambiguous, or a micropenis. It is caused by incomplete intrauterine masculinization with or without the presence of Müllerian structures. It results either from decreased synthesis of testosterone or DHT or from impairment of androgen action. Herein, we report a case of a 13-year child raised as female with hoarseness of voice and gradual enlargement of clitoris with hormonal assessment not suggestive of either 5 Alfa Reductase deficiency, Congenital Adrenal Insufficiency Syndrome or 17β-Hydroxysteroid Dehydrogenase deficiency

17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate

2015 ◽  
Vol 28 (7-8) ◽  
Author(s):  
Elif Sagsak ◽  
Zehra Aycan ◽  
Senay Savas-Erdeve ◽  
Meliksah Keskin ◽  
Semra Cetinkaya ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Molecular Genetic ◽  
External Genitalia ◽  
Genetic Studies ◽  
Labia Majora ◽  
Blind Ending ◽  
Exon 9 ◽  
Low Testosterone ◽  
Type 3 ◽  
Female External Genitalia

Abstract17-β-Hydroxysteroid dehydrogenase type 3 (17βHSD-3) is present almost exclusively in the testes, and converts androstenedione (A) to testosterone (T). 17βHSD-3 deficiency is rare. The diagnosis can be missed in early childhood as the clinical presentation may be subtle. The most frequent presentation of 17 HSD-3 deficiency is a 46,XY individual with female external genitalia, labial fusion and a blind ending vagina, with or without clitoromegaly. A low testosterone/androstenedion (T/A) ratio is suggestive of 17βHSD-3 deficiency, and such diagnosis can be confirmed with molecular genetic studies. A 12-day newborn was referred to our hospital because of palpable gonads in the labia majora. On physical examination, the baby had female external genitalia and palpable gonads in the labia majora. T/A ratio was 0.26 and the diagnosis was 17βHSD-3 deficiency, which was confirmed by the evidence of compound heterozygousity novel frameshift mutations in exon 9 and 10 of

scholarly journals A Novel Mutation Causing 17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Omani Child: First Case Report and Review of Literature

2015 ◽  
Vol 30 (2) ◽  
pp. 129-134 ◽  
Author(s):  
Aisha Al-Sinani ◽  
Waad-Allah Mula-Abed ◽  
Manal Al-Kindi ◽  
Ghariba Al-Kusaibi ◽  
Hanan Al-Azkawi ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Hydroxysteroid Dehydrogenase ◽  
Review Of Literature ◽  
First Case ◽  
Type 3

scholarly journals A case report: 46 XY-disorder of sexual development

2019 ◽  
Vol 8 (3) ◽  
pp. 1200
Author(s):  
Tejal Kansara ◽  
Tushar Shah ◽  
Yesha Umbharatwala
Keyword(s):  
Case Report ◽  
Sexual Development ◽  
Multidisciplinary Approach ◽  
Correct Diagnosis ◽  
External Genitalia ◽  
Peripheral Blood Lymphocytes ◽  
Dysmorphic Features ◽  
Disorder Of Sexual Development ◽  
The Family ◽  
Male Karyotype

Authors report a case of a 6-year-old child with syndromic 46, XY disorder of sexual development. From the birth patient was assigned female. Physical examination showed dysmorphic features and ambiguous external genitalia. Cytogenetic analysis of cultured peripheral blood lymphocytes revealed a male karyotype. The result of the chromosomal investigation showing male genetic sex, together with the ambivalent aspect of the external genitalia and gonads that are exclusively testes led to the diagnosis of 46, XY disorder of sexual development. The clinical management will help the child and the family deal effectively with this condition A multidisciplinary approach to this problem involving pediatricians, specialists in the field of endocrinology, genetics, surgery and psychiatry is necessary in order to reach a prompt and correct diagnosis and treatment.

scholarly journals Characterization of cDNAs encoding isoforms of hamster 3 beta-hydroxysteroid dehydrogenase/delta 5-->4 isomerase

1998 ◽  
Vol 20 (1) ◽  
pp. 99-110 ◽  
Author(s):  
FM Rogerson ◽  
J Courtemanche ◽  
A Fleury ◽  
JG LeHoux ◽  
JI Mason ◽  
...  
Keyword(s):  
Hydroxysteroid Dehydrogenase ◽  
Cdna Libraries ◽  
Sexually Dimorphic ◽  
High Affinity ◽  
Liver And Kidney ◽  
Low Levels ◽  
Type 3

Western blot analyses of various hamster tissues reveal high levels of expression of 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) in adrenal and liver, and moderate levels of expression in kidney. The expression in liver is sexually dimorphic; very high levels of protein are observed in adult male liver but very low levels are seen in the female liver. Three distinct cDNAs encoding isoforms of 3 beta-HSD were isolated from hamster cDNA libraries. The type 1 isoform is a high-affinity dehydrogenase/isomerase expressed in adrenal and male kidney. The type 2 isoform is also a high-affinity dehydrogenase/isomerase expressed in kidney and male liver. The type 3 enzyme is a 3-ketosteroid reductase expressed predominantly in kidney. Sequencing of the clones showed that all three are structurally very similar, although types 1 and 2 share the greatest degree of similarity. Immunohistochemical staining for 3 beta-HSD in the adrenal was found throughout the adrenal cortex. In the kidney staining was confined to tubules, and in the liver, heavy staining was found in hepatocytes. The cloning of cDNAs for 3 beta-HSD from the liver and kidney should help in elucidating the function of this enzyme in these tissues.

scholarly journals Disorder of Sexual Development and Congenital Heart Defect in 47XYY: Clinical Disorder or Coincidence?

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Hanane Latrech ◽  
Imane Skikar ◽  
Mohammed El Hassan Gharbi ◽  
Abdelmjid Chraïbi ◽  
Ahmed Gaouzi
Keyword(s):  
Coronary Artery ◽  
Pulmonary Artery ◽  
Physical Examination ◽  
Sexual Development ◽  
Congenital Heart ◽  
Left Coronary Artery ◽  
Left Ventricular ◽  
Tall Stature ◽  
First Case ◽  
Disorder Of Sexual Development

Background. 47XYY syndrome is a rare sex chromosome variation characterized by an additional Y chromosome. Most patients with 47XYY karyotype have normal phenotype. This disorder seems associated with a higher risk of developing behavioral and cognitive problems, tall stature, and infertility in adulthood. Sexual development disorder is a rare finding. We report a first case with an abnormal left coronary artery originating from the pulmonary artery in a 47XYY patient.Case. A one-month-old child was referred for ectopic testis and micropenis. Physical examination revealed facial dysmorphia, micropenis, and curvature of the penis with nonpalpable testis. Laboratory tests showed decreased total testosterone and anti-Mullerian hormone (AMH) levels. Blood karyotyping revealed a 47XYY chromosomal formula. At the age of 3 months, the patient developed dyspnea and tachycardia. Echocardiography revealed an anomalous left coronary artery from pulmonary artery with left ventricular dysfunction requiring surgical revascularization by direct reimplantation of the left coronary artery system. Our second case was a 3-year-old child referred for hypospadias with nonpalpable left testicle. Physical examination showed hypertelorism. Blood karyotyping revealed a 47XYY chromosomal formula.Conclusion. To our knowledge, this is the first case of 47XYY syndrome associated with this congenital heart malformation and a sexual development disorder.

scholarly journals Deleterious Missense Mutations and Silent Polymorphism in the Human 17β-Hydroxysteroid Dehydrogenase 3 Gene (HSD17B3)1

1998 ◽  
Vol 83 (8) ◽  
pp. 2855-2860 ◽  
Author(s):  
Nabil Moghrabi ◽  
Ieuan A. Hughes ◽  
Andrea Dunaif ◽  
Stefan Andersson
Keyword(s):  
Polycystic Ovary ◽  
External Genitalia ◽  
Hydroxysteroid Dehydrogenase ◽  
Biologically Active ◽  
Male Pseudohermaphroditism ◽  
Missense Mutations ◽  
17Βhsd Deficiency ◽  
Normal Women ◽  
Exon 11 ◽  
Type 3

abstract Isozymes of 17β-hydroxysteroid dehydrogenase (17βHSD) regulate levels of bioactive androgens and estrogens in a variety of tissues. For example, the 17βHSD type 3 isozyme catalyzes the conversion of the inactive C19-steroid androstenedione to the biologically active androgen, testosterone, in the testis. Testosterone is essential for the correct development of male internal and external genitalia; hence, deleterious mutations in the HSD17B3 gene give rise to a rare form of male pseudohermaphroditism termed 17βHSD deficiency. Here, 2 additional missense mutations in the HSD17B3 gene in subjects with 17βHSD deficiency are described. One mutation (A56T) impairs enzyme function by affecting NADPH cofactor binding. A second mutation (N130S) led to complete loss of enzyme activity. Also, a single base pair polymorphism in exon 11 of the HSD17B3 gene is described. The polymorphic A allele encodes a protein with a serine rather than a glycine at position 289 (GGT → AGT). The frequency of the G allele (Gly) was 0.94, and that of the A allele (Ser) was 0.06. No difference in the frequencies of the G and A alleles was detected in 32 apparently normal women and 46 women with polycystic ovary syndrome. Enzymes bearing either glycine or serine at this position have similar substrate specificities and kinetic constants. The current findings boost to 16 the number of mutations in the HSD17B3 gene that impair testosterone synthesis and cause male pseudohermaphroditism, and add 1 apparently silent polymorphism to this tally.

scholarly journals Ovotesticular disorder of sexual development in a patient with 46,XY karyotype

2017 ◽  
Vol 63 (3) ◽  
pp. 201-203
Author(s):  
Nadezda Y. Raygorodskaya ◽  
Nina V. Bolotova ◽  
Danil A. Jarkov ◽  
Tatyana V. Palatova ◽  
Natalya S. Dorovskaya
Keyword(s):  
Histological Examination ◽  
Sexual Development ◽  
Ovarian Tissue ◽  
External Genitalia ◽  
Gonadal Differentiation ◽  
Tubular Epithelium ◽  
Fallopian Tubes ◽  
Primordial Follicles ◽  
Cellular Changes ◽  
Disorder Of Sexual Development

A 46,XY ovotesticular disorder of sexual development is a rare variant of pathological gonadal differentiation. A 15-month-old patient had ambiguous external genitalia, no palpable gonads, and the 46,XY karyotype. The uterus was detected by imaging of the lesser pelvis. Gonads resided on the fallopian tubes and macroscopically resembled ovotestes: each gonad consisted of two compartments separated by a connective tissue interlayer. Histological examination showed that one gonadal portion consisted for ovarian tissue, was differentiated into the cortical and medullary matter, and contained primordial follicles with pronounced dystrophic changes. The remaining portions consisted of immature tubular epithelium with proliferative cellular changes. The decision about bringing up as a female with possible adaptation during puberty was justified in this case. The surgical approach was selected on the basis of histological examination and a decision on performing gonadectomy was made.

scholarly journals Laparoscopic Assisted Orchidectomy Eases Future Insertion of Testicular Prosthesis in Paediatric Patients

2014 ◽  
Vol 2 (1) ◽  
pp. 33-34
Author(s):  
Dayang Anita Abdul Aziz ◽  
Zainal Adwin Abidin ◽  
Mahmud Mohd Nor ◽  
Suria Hayati Md Pauzi ◽  
Rahmah Rasat ◽  
...  
Keyword(s):  
Sexual Development ◽  
Open Surgery ◽  
External Genitalia ◽  
Malignant Change ◽  
High Ligation ◽  
Testicular Tumours ◽  
Novel Technique ◽  
Paediatric Patients ◽  
Disorder Of Sexual Development ◽  
Laparoscopic Assisted

High ligation orchidectomy in paediatric patients is performed for testicular tumours. This is carried out via open surgery at the inguinal or groin region. In these boys, elective insertion of testicular prostheses is carried out later to improve the external genitalia appearance. In most cases, insertion of testicular prosthesis or implant is carried out via the previous scar, to avoid prosthesis extrusion; however this is usually difficult due to scarring and may cause haematoma and possible infection. We report a novel technique of laparoscopic assisted orchidectomy in an adolescent boy with disorder of sexual development (DSD) whom was suspected of having bilateral gonadal (testicular) malignant change, he successfully underwent bilateral ligation of testicular vessels laparoscopically and removal of both testes via a midline scrotal raphe incision; hence avoiding bilateral groin incisions. With this method, future insertion of testicular prostheses can be carried out via virgin inguinal incisions.

scholarly journals The dilemma of the gender assignment in a Portuguese adolescent with disorder of sex development due to 17β-hydroxysteroid-dehydrogenase type 3 enzyme deficiency

2014 ◽  
Vol 2014 ◽  
Author(s):  
Carla Costa ◽  
Cíntia Castro-Correia ◽  
Alda Mira-Coelho ◽  
Bessa Monteiro ◽  
Joaquim Monteiro ◽  
...  
Keyword(s):  
Identity Development ◽  
Social Factor ◽  
External Genitalia ◽  
Hydroxysteroid Dehydrogenase ◽  
Child Psychiatrist ◽  
List Type ◽  
Gender Assignment ◽  
Disorder Of Sex Development ◽  
Sex Development ◽  
Type 3

Summary The development of male internal and external genitalia in an XY fetus requires a complex interplay of many critical genes, enzymes, and cofactors. The enzyme 17β-hydroxysteroid-dehydrogenase type 3 (17βHSD3) is present almost exclusively in the testicles and converts Delta 4-androstenodione (Δ4) to testosterone. A deficiency in this enzyme is rare and is a frequently misdiagnosed autosomal recessive cause of 46,XY, disorder of sex development. The case report is of a 15-year-old adolescent, who was raised according to female gender. At puberty, the adolescent had a severe virilization and primary amenorrhea. The physical examination showed a male phenotype with micropenis and blind vagina. The Tanner stage was A3B1P4, nonpalpable gonads. The karyotype revealed 46,XY. The endocrinology study revealed: testosterone=2.38 ng/ml, Δ4>10.00 ng/ml, and low testosterone/Δ4 ratio=0.23. Magnetic resonance imaging of the abdominal–pelvic showed the presence of testicles in inguinal canal, seminal vesicle, prostate, micropenis, and absence of uterus and vagina. The genetic study confirmed the mutation p.Glu215Asp on HSD17B3 gene in homozygosity. The dilemma of sex reassignment was seriously considered when the diagnosis was made. During all procedures the patient was accompanied by a child psychiatrist/psychologist. The teenager desired to continue being a female, so gonadectomy was performed. Estrogen therapy and surgical procedure to change external genitalia was carried out. In this case, there was a severe virilization at puberty. It is speculated to be due to a partial activity of 17βHSD3 in the testicles and/or extratesticular ability to convert Δ4 to testosterone by 17βHSD5. Prenatal exposure of the brain to androgens has increasingly been put forward as a critical factor in gender identity development, but in this case the social factor was more important for the gender assignment. Learning points In this case, we highlight the late diagnosis, probably because the patient belongs to a poor family without proper primary medical care. We emphasize the psychological and social aspects in the sex assignment decision.

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