Case report: Coexistence of Jacobs syndrome, congenital adrenal hyperplasia, and ambiguous genitalia in a male infant

被引：0

作者：

Khan, Qaisar Ali ^{[1
]}

Amatul-Hadi, Faiza ^{[2
]}

Kooner, Amritpal ^{[3
]}

Lee, Amber ^{[4
]}

Ahmed, Rahma ^{[5
]}

Nadella, Adithya ^{[6
]}

Pande, Harshawardhan ^{[7
]}

Levin-Carrion, Yaxel ^{[8
]}

Afzal, Muhammad ^{[9
]}

Alfaro, Moses ^{[10
]}

机构：

[1] Khyber Teaching Hosp MTI KTH, Peshawar, Pakistan

[2] Mercer Univ, Sch Med, Macon, GA USA

[3] Chicago Coll Osteopath Med, Downers Grove, IL USA

[4] Arkansas Coll Osteopath Med, Ft Smith, AR USA

[5] Kennesaw State Univ, Kennesaw, GA USA

[6] Nanjing Med Univ, Nanjing, Peoples R China

[7] St Louis Univ, St Louis, MO USA

[8] Rutgers New Jersey Med Sch, Newark, NJ USA

[9] St Georges Univ, Sch Med, True Blue, Grenada

[10] Univ Texas Hlth Sci Ctr San Antonio, Long Sch Med, San Antonio, TX USA

来源：

CLINICAL CASE REPORTS | 2023年 / 11卷 / 11期

关键词：

congenital adrenal hyperplasia; Jacobs syndrome; virilization; XY karyotype; PRENATAL TREATMENT;

D O I：

10.1002/ccr3.8097

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Key Clinical MessageJacobs syndrome and congenital adrenal hyperplasia are separate entities but share common clinical features such as ambiguous genitalia. Further studies are needed to conclude the relationship between Jacobs syndrome and congenital adrenal hyperplasia.AbstractA 5-month-old male infant was evaluated for ambiguous genitalia. Examination revealed cryptorchidism, inguinal hernia, long phallus, and Grade 3 scrotal hypospadias. Serum 17-OH progesterone was high and chromosomal analysis showed 47XYY/45XO. A diagnosis of Jacobs and CAH was made. The parents were counseled about the patient's condition. He was given hydrocortisone and referred to the pediatric surgeon for further management.

引用

页数：5

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