Clinical features and genetic characteristics of 33 patients with simple virilizing form of 21-hydroxylase deficiency / 中华内科杂志

Objective To analyze the clinical features and genotypes of adult patients with simple virilizing form of 21-hydroxylase deficiency (SV 21-OHD).Methods This is a retrospective study including 33 patients with SV 21-OHD from January 2015 to March 2018 in the Ninth People's Hospital of Shanghai Jiao Tong University School of Medicine.Results The diagnostic age of the patients was (26.3± 6.5) years old.All patients presented with signs of masculinization,such as short stature (100％),clitoromegaly/microphallus (89.65％,26/29),undeveloped breasts (82.76％,24/29),deep voice (55.17％,16/29) and primary amenorrhea (89.65％,26/29).The serum levels of 17-hydroxyprogesterone (17-OHP),androstenedione (AD) and testosterone were significantly elevated in 90.9％,93.9％ and 91.2％ of the patients,respectively.Thirteen types of mutations were identified in CYP21A2 from these patients.Among them,I173N accounted for 40％ and I2 G accounted for 18.33％.Four patients were found with multiple mutations in CYP21A2.Conclusions Short stature,clitoromegaly/microphallus and primary amenorrhea are the most common clinical features in adult patients with SV 21-OHD.Serum levels of 17-OHP and AD are important indices for the diagnosis and monitoring of the patients.I173N and I2 G are the two most prevalent mutations in patients of the present study.Limitation of clinical recognition and delay in treatment contribute to the short stature of the SV 21-OHD patients.

Hiperplasia suprarrenal congénita virilizante simple, a propósito de un caso / Simple Virilizing Congenital Adrenal Hyperplasia, a case report

La hiperplasia suprarrenal congénita (HSC) es un grupo de trastornos genéticos del metabolismo del cortisol. Su forma clásica y más frecuente, incluye una forma perdedora de sal que evoluciona de forma grave con shock hipovolémico en periodo neonatal; y una forma virilizante simple, que en neonatos de sexo femenino puede generar trastornos del desarrollo sexual, antes llamados, genitales ambiguos. En el sexo masculino puede manifestarse sólo como macrogenitosomía, lo que muchas veces retrasa el diagnóstico. Éste se confirma objetivando la elevación de niveles plasmáticos de 17 Hidroxiprogesterona, asociado a niveles elevados de andrógenos adrenales; una vez hecho el diagnóstico, es necesario iniciar terapia de reemplazo esteroidal con hidrocortisona, y si existe déficit de mineralocorticoides, fludrocortisona. Presentamos un paciente preescolar de sexo masculino, con diagnóstico tardío de HSC, correspondiente a la forma virilizante simple y sus consecuencias sobre su estatura.

Congenital adrenal hyperplasia (CAH) includes a wide group of genetic cortisol metabolism disorders. The most frequent form, the classic one, may present as a severe salt wasting syndrome, with hypovolemic shock during the neonatal period; or as a simple virilizing form. In girls, this may produce a disorder of sexual development, formerly called, ambigous genitalia. In boys, clinical manifestations can be subtle, with penile enlargement and small testes, which can delay the diagnosis. The elevated serum levels of 17-OH Progesterone, along with elevated adrenal androgens, allow to confirm the diagnosis. Once confirmed, it is imperative to initiate steroid treatment, with Hydrocortisone, and mineralocorticoid if needed. We present a case of simple virilizing CAH in a preeschool male, who had a late diagnosis que comprometió su estatura.

Tumores virilizantes del ovario: presentación de dos casos manejados mediante cirugía por monopuerto / Virilizing tumors of the ovary: presentation of two cases managed by single-port surgery

Los tumores virilizantes, corresponden al 1% de todos los tumores funcionales del ovario. Estos tipos de tumores virilizantes se originan de las células pluri-potenciales del estroma ovárico, tienen la capacidad de secretar 17-hidroxiprogesterona, testosterona y androstenediona, desencadenando hiperandrogenismo clínico. Son catalogados como de bajo potencial maligno, con un patrón de crecimiento lento, bien diferenciados, diagnosticados en su mayoría en estadío I y II, de buen pronóstico y típicos de mujeres en edad reproductiva. El objetivo de esta comunicación es presentar dos casos clínicos con diagnóstico de tumor virilizante de ovario, tratadas con cirugía laparoscópica por mono puerto.

Virilizing tumors, corresponding to 1% of all functional ovarian tumors. Those type of virilizing tumors originate from pluripotential ovarian stromal cells and have the capacity to secrete 17-hydroxyprogesterone, testosterone and androstenedione, triggering clinical hyperandrogenism. They are classified as low malignant potential, well differentiated, with a pattern of slow growth, mostly diagnosed in stage I and II, with good prognosis and typical of women of reproductive age. The aim of this paper is to present two cases of virilizing ovarian tumor treated by mono port laparoscopic surgery.